Ana Rath Annie Olry Boulares Ouchenne Caterina Lucano David Lagorce Marc Hanauer Valérie Lanneau 2013-06-20T12:00:00 2025-06-24T11:45:20 4.7 curator_inference manual_assertion Relationship between a clinical entity and modes of inheritance. has_inheritance Relationship between clinical entity and age of onset. has_age_of_onset Relationship between a clinical entity and the geographical area for which epidemiological data (Epidemiology) is available. present_in Stable URL pointing to the specific page of a given disease on the Orphanet website expertlink A clinical entity for which no new information has been published in the literature since the advent of the genetic era in the 1990s, but is considered as a distinct phenotype and is therefore kept in the nomenclature. Historical entity Relation between two clinical entities, one being included in the other. Ex : clinical subtype part_of disease. part_of A mutation of a gene in a germ cell that is sufficient to cause the disorder and can be transmitted to the offspring. disease-causing germline mutation(s) in A mutation of a gene in a somatic cell that is sufficient to cause the disorder but can not be transmitted to the offspring. disease-causing somatic mutation(s) in A gene mutation in a germ cell that predisposes to the development of a disorder, and that is necessary but not sufficient to develop the disorder. major susceptibility factor in A gene mutation in a germ cell that modifies the clinical presentation of the disorder and that can be passed on to offspring. modifying germline mutation in A coding or regulatory DNA sequence from a gene that has fused with another coding and/or regulatory DNA sequence from a different gene. part of a fusion gene in A gene included in a chromosomal rearrangement, and proved to have a major influence in the phenotype of the chromosomal rearrangement. role in the phenotype of A gene in which a mutation is suspected, but not yet proven, to be responsible for a disorder, but for which a genetic test (s) is (are) available candidate gene tested in A mutation of a gene in a germ cell that alters the function of the corresponding protein is sufficient to cause the disorder and can be transmitted to the offspring. disease-causing germline mutation(s) (loss of function) in A mutation of a gene in a germ cell that results in a new function of the corresponding protein is sufficient to cause the disorder and can be transmitted to the offspring. disease-causing germline mutation(s) (gain of function) in A gene in which a variation is used to monitor disorder activity and/or patient outcome. biomarker tested in This relation is generated between the deprecated entity and the active clinical entity (designated as the target entity) that is now recognized. The targeted ORPHAcode must be used as the code of replacement. Moved to This relation is generated between an obsolete entity and an active clinical entity (designated as the target entity) for appropriate redirection towards a code of replacement in coding settings. The targeted ORPHAcode should be viewed as a suggestion. Referred to Relationship between a gene with protein product, non-coding RNA or disorder-associated locus and its cytogenetic location on the chromosome. has_chromosomal location A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations. Orphanet ICD-10:Q98.8 ICD-11:LD50.3Y MONDO:0015028 MeSH:D007713 MedDRA:10048230 UMLS:C2936741 Not applicable Unknown Adolescent Childhood Infancy Neonatal Europe AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=10 48,XXYY syndrome ORPHA:10 MedDRA:10048230 E (Exact mapping: the two concepts are equivalent) UMLS:C2936741 E (Exact mapping: the two concepts are equivalent) ICD-10:Q98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD50.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015028 E (Exact mapping: the two concepts are equivalent) MeSH:D007713 E (Exact mapping: the two concepts are equivalent) Louis-Bar syndrome A rare autosomal recessive cerebellar ataxia due to a DNA repair defect characterized by progressive neurological impairment with cerebellar syndrome, oculocutaneous telangiectasia, defects in B and T cell-mediated immunity, and increased susceptibility to malignancies (mainly lymphoid neoplasms). High sensitivity to ionizing radiation limits patient treatments. Orphanet ICD-10:G11.3 ICD-11:4A01.31 MONDO:0008840 MeSH:D001260 MedDRA:10003594 OMIM:208900 OMIM:208910 UMLS:C0004135 Autosomal recessive Childhood Infancy Europe AND has_point_prevalence_average_value : 0.49 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 1.19 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000 Portugal AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100 Ataxia-telangiectasia ORPHA:100 ICD-10:G11.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:4A01.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008840 E (Exact mapping: the two concepts are equivalent) MeSH:D001260 E (Exact mapping: the two concepts are equivalent) MedDRA:10003594 E (Exact mapping: the two concepts are equivalent) OMIM:208900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:208910 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0004135 E (Exact mapping: the two concepts are equivalent) Ocular albinism with late-onset sensorineural hearing loss Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. Orphanet ICD-10:E70.3 ICD-11:LD2H.Y MONDO:0010390 MeSH:C537043 OMIM:300650 UMLS:C1845069 X-linked recessive Adult Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1000 Ocular albinism with late-onset sensorineural deafness ORPHA:1000 ICD-10:E70.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010390 E (Exact mapping: the two concepts are equivalent) MeSH:C537043 E (Exact mapping: the two concepts are equivalent) OMIM:300650 E (Exact mapping: the two concepts are equivalent) UMLS:C1845069 E (Exact mapping: the two concepts are equivalent) ICD-10:D36.1 ICD-11:2F3Y MONDO:0015029 UMLS:C5681810 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100000 Reticular perineurioma Clinical subtype ORPHA:100000 ICD-10:D36.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015029 E (Exact mapping: the two concepts are equivalent) UMLS:C5681810 E (Exact mapping: the two concepts are equivalent) ICD-10:D36.1 ICD-11:2F3Y MONDO:0015030 UMLS:C5681811 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100001 Sclerosing perineurioma Clinical subtype ORPHA:100001 ICD-10:D36.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015030 E (Exact mapping: the two concepts are equivalent) UMLS:C5681811 E (Exact mapping: the two concepts are equivalent) Soft tissue perineurioma Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization. Orphanet ICD-10:D36.1 ICD-11:2F3Y MONDO:0015031 UMLS:C4708595 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100002 Extraneural perineurioma ORPHA:100002 ICD-10:D36.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015031 E (Exact mapping: the two concepts are equivalent) UMLS:C4708595 E (Exact mapping: the two concepts are equivalent) Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare. Orphanet ICD-10:D36.1 ICD-11:2F3Y ICD-11:XH4BQ8 MONDO:0015032 UMLS:C1370658 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100003 Intraneural perineurioma ORPHA:100003 ICD-10:D36.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:XH4BQ8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015032 E (Exact mapping: the two concepts are equivalent) UMLS:C1370658 E (Exact mapping: the two concepts are equivalent) ABetaE22Q amyloidosis HCHWA, Dutch type HCHWA-D Hereditary cerebral hemorrhage with amyloidosis, Dutch type A form of hereditary cerebral hemorrhage with amyloidosis characterized by severe cerebral amyloid angiopathy (CAA), predominantly hemorrhagic strokes and dementia. Orphanet ICD-10:E85.4+ ICD-10:I68.0* ICD-11:8B22.3 MONDO:0015033 OMIM:605714 UMLS:C2931672 Autosomal dominant Adult Worldwide AND has_cases/families_value : 250.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100006 ABeta amyloidosis, Dutch type Clinical subtype ORPHA:100006 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:I68.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B22.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015033 E (Exact mapping: the two concepts are equivalent) OMIM:605714 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C2931672 E (Exact mapping: the two concepts are equivalent) CST3-related amyloidosis Cystatin amyloidosis HCHWA, Icelandic type Hereditary cerebral hemorrhage with amyloidosis, Icelandic type Hereditary cystatin C amyloid angiopathy A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the <i>CST3</i> gene (20p11.2), encoding the precursor protein cystatin C. Orphanet ICD-10:E85.4+ ICD-10:I68.0* ICD-11:8B22.3 MONDO:0007098 OMIM:105150 UMLS:C1527338 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 9.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100008 ACys amyloidosis Clinical subtype ORPHA:100008 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:I68.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B22.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007098 E (Exact mapping: the two concepts are equivalent) OMIM:105150 E (Exact mapping: the two concepts are equivalent) UMLS:C1527338 E (Exact mapping: the two concepts are equivalent) A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 MONDO:0015034 UMLS:C5191423 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100011 Lissencephaly with cerebellar hypoplasia type A ORPHA:100011 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015034 E (Exact mapping: the two concepts are equivalent) UMLS:C5191423 E (Exact mapping: the two concepts are equivalent) A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 MONDO:0015035 UMLS:C4274993 Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100012 Lissencephaly with cerebellar hypoplasia type B ORPHA:100012 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015035 E (Exact mapping: the two concepts are equivalent) UMLS:C4274993 E (Exact mapping: the two concepts are equivalent) A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 MONDO:0015036 UMLS:C4274992 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100013 Lissencephaly with cerebellar hypoplasia type C ORPHA:100013 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015036 E (Exact mapping: the two concepts are equivalent) UMLS:C4274992 E (Exact mapping: the two concepts are equivalent) A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (&#8804; -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 MONDO:0015037 UMLS:C4274991 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100014 Lissencephaly with cerebellar hypoplasia type D ORPHA:100014 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015037 E (Exact mapping: the two concepts are equivalent) UMLS:C4274991 E (Exact mapping: the two concepts are equivalent) A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 MONDO:0015038 UMLS:C5191422 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100015 Lissencephaly with cerebellar hypoplasia type E ORPHA:100015 ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015038 E (Exact mapping: the two concepts are equivalent) UMLS:C5191422 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 MONDO:0015039 UMLS:C4274989 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100016 Lissencephaly with cerebellar hypoplasia type F ORPHA:100016 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015039 E (Exact mapping: the two concepts are equivalent) UMLS:C4274989 E (Exact mapping: the two concepts are equivalent) MDS-IB1 RAEB-1 Refractory anemia with excess blasts type 1 A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months. Orphanet ICD-10:D46.2 ICD-11:2A35 MONDO:0015040 UMLS:C1318550 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100019 Myelodysplastic neoplasm with increased blasts type 1 Clinical subtype ORPHA:100019 ICD-10:D46.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A35 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015040 E (Exact mapping: the two concepts are equivalent) UMLS:C1318550 E (Exact mapping: the two concepts are equivalent) MDS-IB2 RAEB-2 Refractory anemia with excess blasts type 2 A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months. Orphanet ICD-10:D46.2 ICD-11:2A35 MONDO:0015041 UMLS:C4704767 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100020 Myelodysplastic neoplasm with increased blasts type 2 Clinical subtype ORPHA:100020 ICD-10:D46.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A35 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015041 E (Exact mapping: the two concepts are equivalent) UMLS:C4704767 E (Exact mapping: the two concepts are equivalent) ICD-10:C90.3 ICD-11:2A83.2 MONDO:0015042 United States AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100021 Primary plasmacytoma of the bone Clinical subtype ORPHA:100021 ICD-10:C90.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2A83.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015042 E (Exact mapping: the two concepts are equivalent) ICD-10:C90.2 ICD-11:2A83.2 MONDO:0015043 UMLS:C2211567 United States AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100022 Extramedullary soft tissue plasmacytoma Clinical subtype ORPHA:100022 ICD-10:C90.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A83.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015043 E (Exact mapping: the two concepts are equivalent) UMLS:C2211567 E (Exact mapping: the two concepts are equivalent) mu-HCD A type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). Orphanet ICD-10:C88.2 ICD-11:2A84.2 ICD-11:XH2JK2 MONDO:0015044 UMLS:C0242310 Adult Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100024 Mu-heavy chain disease Clinical subtype ORPHA:100024 ICD-10:C88.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A84.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH2JK2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015044 E (Exact mapping: the two concepts are equivalent) UMLS:C0242310 E (Exact mapping: the two concepts are equivalent) Alpha-HCD IPSID Immunoproliferative small intestinal disease Mediterranean lymphoma A type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption. Orphanet ICD-10:C88.3 ICD-11:2A84.0 ICD-11:XH1Y65 MONDO:0015045 MeSH:D007161 UMLS:C0021071 Adolescent Adult Worldwide AND has_cases/families_value : 400.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100025 Alpha-heavy chain disease Clinical subtype ORPHA:100025 ICD-10:C88.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A84.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:XH1Y65 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015045 E (Exact mapping: the two concepts are equivalent) MeSH:D007161 E (Exact mapping: the two concepts are equivalent) UMLS:C0021071 E (Exact mapping: the two concepts are equivalent) Franklin disease Gamma-HCD A type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases. Orphanet ICD-10:C88.2 ICD-11:2A84.1 MONDO:0015046 UMLS:C0018854 Adult Worldwide AND has_cases/families_value : 120.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100026 Gamma-heavy chain disease Clinical subtype ORPHA:100026 ICD-10:C88.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A84.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015046 E (Exact mapping: the two concepts are equivalent) UMLS:C0018854 E (Exact mapping: the two concepts are equivalent) Amelogenesis imperfecta type 1 ICD-10:K00.5 ICD-11:LA30.6 MONDO:0015047 MeSH:C538240 OMIM:104500 OMIM:104530 OMIM:204650 OMIM:301201 OMIM:616221 OMIM:616270 OMIM:617297 UMLS:C0399367 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100031 Hypoplastic amelogenesis imperfecta Clinical subtype ORPHA:100031 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015047 E (Exact mapping: the two concepts are equivalent) MeSH:C538240 E (Exact mapping: the two concepts are equivalent) OMIM:104500 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:104530 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:204650 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301201 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616221 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616270 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617297 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0399367 E (Exact mapping: the two concepts are equivalent) Amelogenesis imperfecta type 3 ICD-10:K00.5 ICD-11:LA30.6 MONDO:0968955 MeSH:C562880 OMIM:130900 OMIM:616221 OMIM:617607 UMLS:C0399376 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100032 Hypocalcified amelogenesis imperfecta Clinical subtype ORPHA:100032 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0968955 E (Exact mapping: the two concepts are equivalent) MeSH:C562880 E (Exact mapping: the two concepts are equivalent) OMIM:130900 E (Exact mapping: the two concepts are equivalent) OMIM:616221 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617607 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0399376 E (Exact mapping: the two concepts are equivalent) Amelogenesis imperfecta type 2 ICD-10:K00.5 ICD-11:LA30.6 MONDO:0015048 MeSH:C536606 OMIM:204700 OMIM:301200 OMIM:612529 OMIM:613211 OMIM:614832 OMIM:615887 OMIM:617217 UMLS:C0399372 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100033 Hypomaturation amelogenesis imperfecta Clinical subtype ORPHA:100033 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015048 E (Exact mapping: the two concepts are equivalent) MeSH:C536606 E (Exact mapping: the two concepts are equivalent) OMIM:204700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612529 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613211 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614832 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615887 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617217 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0399372 E (Exact mapping: the two concepts are equivalent) Amelogenesis imperfecta type 4 ICD-10:K00.5 ICD-11:LA30.6 MONDO:0007093 OMIM:104510 UMLS:C0399373 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Clinical subtype ORPHA:100034 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007093 E (Exact mapping: the two concepts are equivalent) OMIM:104510 E (Exact mapping: the two concepts are equivalent) UMLS:C0399373 E (Exact mapping: the two concepts are equivalent) Hepatic solitary necrotic nodule A rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort. Orphanet ICD-10:D13.4 ICD-11:DB99.Y MONDO:0015049 UMLS:C2960192 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100035 Solitary necrotic nodule of the liver ORPHA:100035 ICD-10:D13.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DB99.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015049 E (Exact mapping: the two concepts are equivalent) UMLS:C2960192 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Dehydrated hereditary stomatocytosis Familial pseudohyperkalemia type 1 ORPHA:100039 This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Familial pseudohyperkalemia OBSOLETE: Familial pseudohyperkalemia type 2 ORPHA:100040 This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Familial pseudohyperkalemia OBSOLETE: Familial pseudohyperkalemia, Cardiff type ORPHA:100041 CMTDIA A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards. Orphanet ICD-10:G60.0 ICD-11:8C20.2 MONDO:0011675 MeSH:C564702 OMIM:606483 UMLS:C1847896 Autosomal dominant Adult Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A ORPHA:100043 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011675 E (Exact mapping: the two concepts are equivalent) MeSH:C564702 E (Exact mapping: the two concepts are equivalent) OMIM:606483 E (Exact mapping: the two concepts are equivalent) UMLS:C1847896 E (Exact mapping: the two concepts are equivalent) CMTDIB A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. Orphanet ICD-10:G60.0 ICD-11:8C20.2 MONDO:0011674 MeSH:C564703 OMIM:606482 UMLS:C1847902 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 37.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B ORPHA:100044 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011674 E (Exact mapping: the two concepts are equivalent) MeSH:C564703 E (Exact mapping: the two concepts are equivalent) OMIM:606482 E (Exact mapping: the two concepts are equivalent) UMLS:C1847902 E (Exact mapping: the two concepts are equivalent) CMTDIC A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. Orphanet ICD-10:G60.0 ICD-11:8C20.2 MONDO:0012012 MeSH:C564257 OMIM:608323 UMLS:C1842237 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C ORPHA:100045 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012012 E (Exact mapping: the two concepts are equivalent) MeSH:C564257 E (Exact mapping: the two concepts are equivalent) OMIM:608323 E (Exact mapping: the two concepts are equivalent) UMLS:C1842237 E (Exact mapping: the two concepts are equivalent) CMTDID A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. Orphanet ICD-10:G60.0 ICD-11:8C20.2 MONDO:0011909 MeSH:C564333 OMIM:607791 UMLS:C1843075 Autosomal dominant Adult Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D ORPHA:100046 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0011909 E (Exact mapping: the two concepts are equivalent) MeSH:C564333 E (Exact mapping: the two concepts are equivalent) OMIM:607791 E (Exact mapping: the two concepts are equivalent) UMLS:C1843075 E (Exact mapping: the two concepts are equivalent) A rare, congenital, non-syndromic esophageal malformation characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, and are continuous or contiguous to the esophagus. The cyst is typically distally located and may or may not communicate with the esophageal lumen. Most become symptomatic presenting with a wide range of symptoms including dysphagia, non-productive cough, chest pain or failure to thrive. Others like palpitations due cardiac arrhythmia, thoracic back pain, and fever due to mediastinitis, have also been reported. Orphanet ICD-10:Q39.8 ICD-11:LB12.Y MONDO:0015050 UMLS:C4303524 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100047 Isolated esophageal duplication cyst ORPHA:100047 ICD-10:Q39.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB12.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015050 E (Exact mapping: the two concepts are equivalent) UMLS:C4303524 E (Exact mapping: the two concepts are equivalent) A rare, non-syndromic, congenital esophageal malformation characterized by a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lying within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in childhood. Orphanet ICD-10:Q39.8 ICD-11:LB12.Y MONDO:0015051 UMLS:C4274729 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100048 Isolated tubular duplication of the esophagus ORPHA:100048 ICD-10:Q39.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB12.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015051 E (Exact mapping: the two concepts are equivalent) UMLS:C4274729 E (Exact mapping: the two concepts are equivalent) Primary ILD specific to childhood due to pulmonary surfactant protein anomalies A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation. Orphanet UMLS:C5680383 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Category ORPHA:100049 UMLS:C5680383 E (Exact mapping: the two concepts are equivalent) HAE 1 HAE-I Hereditary angioneurotic edema type 1 A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. Orphanet ICD-10:D84.1 ICD-11:4A00.14 MONDO:0015053 OMIM:106100 Autosomal dominant All ages Europe AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 1.54 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100050 Hereditary angioedema type 1 Etiological subtype ORPHA:100050 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015053 E (Exact mapping: the two concepts are equivalent) OMIM:106100 E (Exact mapping: the two concepts are equivalent) HAE 2 HAE-II Hereditary angioneurotic edema type 2 Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. Orphanet ICD-10:D84.1 ICD-11:4A00.14 MONDO:0015054 OMIM:106100 UMLS:C0398776 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100051 Hereditary angioedema type 2 Etiological subtype ORPHA:100051 ICD-10:D84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015054 E (Exact mapping: the two concepts are equivalent) OMIM:106100 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0398776 E (Exact mapping: the two concepts are equivalent) F12-related HAE with normal C1 inhibitor HAE 3 HAE-III Hereditary angioedema type 3 Hereditary angioneurotic edema type 3 Inherited estrogen-associated angioedema Inherited estrogen-associated angioneurotic edema Inherited estrogen-dependent angioedema Inherited estrogen-dependent angioneurotic edema A rare hereditary angioedema characterized by normal serum levels and function of C1 inhibitor, normal C1 activity, and, clinically, recurrent subcutaneous edema, abdominal pain attacks, and episodes of potentially life-threatening upper airway obstruction. The disorder occurs almost exclusively in women, and episodes are often precipitated or worsened by high estrogen levels (such as during pregnancy or treatment with oral contraceptives). Orphanet ICD-10:T78.3 ICD-11:4A00.14 MONDO:0012526 MeSH:D056828 OMIM:610618 UMLS:C1857728 Autosomal dominant Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100054 F12-related hereditary angioedema with normal C1Inh Clinical subtype ORPHA:100054 ICD-10:T78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0012526 E (Exact mapping: the two concepts are equivalent) MeSH:D056828 E (Exact mapping: the two concepts are equivalent) OMIM:610618 E (Exact mapping: the two concepts are equivalent) UMLS:C1857728 E (Exact mapping: the two concepts are equivalent) AAE 2 AAE II Acquired angioneurotic edema type 2 A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. Orphanet ICD-10:T78.3 ICD-11:4A00.15 MONDO:0015055 UMLS:C5680381 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100055 Acquired angioedema type 2 Clinical subtype ORPHA:100055 ICD-10:T78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.15 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015055 E (Exact mapping: the two concepts are equivalent) UMLS:C5680381 E (Exact mapping: the two concepts are equivalent) Acquired angioneurotic edema type 1 A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. Orphanet ICD-10:T78.3 ICD-11:4A00.15 MONDO:0015056 UMLS:C5680380 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100056 Acquired angioedema type 1 Clinical subtype ORPHA:100056 ICD-10:T78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.15 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015056 E (Exact mapping: the two concepts are equivalent) UMLS:C5680380 E (Exact mapping: the two concepts are equivalent) ACE inhibitor-related acquired angioedema ACEI-related acquired angioedema Acquired angioedema with normal C1 inhibitor Acquired angioedema with normal C1INH RAAS-blocker-induced angioedema RAAS-blocker-induced angioneurotic edema RAE Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. Orphanet ICD-10:T78.3 ICD-11:EH61.1 MONDO:0015057 OMIM:300909 UMLS:C1268945 Multigenic/multifactorial Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema ORPHA:100057 ICD-10:T78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EH61.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015057 E (Exact mapping: the two concepts are equivalent) OMIM:300909 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1268945 E (Exact mapping: the two concepts are equivalent) ICD-10:A39.1+ ICD-10:E35.1* ICD-11:1C1C.1 MONDO:0006015 MeSH:D014884 MedDRA:10047847 UMLS:C1403891 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100067 Waterhouse-Friderichsen syndrome Clinical subtype ORPHA:100067 ICD-10:A39.1+ - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:E35.1* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1C1C.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0006015 E (Exact mapping: the two concepts are equivalent) MeSH:D014884 E (Exact mapping: the two concepts are equivalent) MedDRA:10047847 E (Exact mapping: the two concepts are equivalent) UMLS:C1403891 E (Exact mapping: the two concepts are equivalent) Semantic primary progressive aphasia Semantic variant PPA Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. Orphanet ICD-10:G31.0 ICD-11:6D83 MONDO:0010857 OMIM:172700 OMIM:600274 UMLS:C0338462 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100069 Semantic dementia ORPHA:100069 ICD-10:G31.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:6D83 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010857 E (Exact mapping: the two concepts are equivalent) OMIM:172700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:600274 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0338462 E (Exact mapping: the two concepts are equivalent) Agramatic variant of PPA Agramatic variant of primary progressive aphasia Non-fluent variant PPA Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved. Orphanet ICD-10:G31.0 ICD-11:6D83 MONDO:0015059 MeSH:D057178 MedDRA:10029542 OMIM:172700 OMIM:600274 OMIM:607485 UMLS:C0751706 Multigenic/multifactorial Not applicable Adult Europe AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100070 Progressive non-fluent aphasia ORPHA:100070 ICD-10:G31.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:6D83 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015059 E (Exact mapping: the two concepts are equivalent) MeSH:D057178 E (Exact mapping: the two concepts are equivalent) MedDRA:10029542 E (Exact mapping: the two concepts are equivalent) OMIM:172700 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:600274 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:607485 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0751706 E (Exact mapping: the two concepts are equivalent) Mosaic trisomy chromosome 3 Trisomy 3 mosaicism Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities. Orphanet ICD-10:Q92.1 ICD-11:LD40.Y MONDO:0015060 UMLS:C4707012 Antenatal Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100071 Mosaic trisomy 3 syndrome ORPHA:100071 ICD-10:Q92.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD40.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015060 E (Exact mapping: the two concepts are equivalent) UMLS:C4707012 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Thoracic outlet syndrome OBSOLETE: True vascular thoracic outlet syndrome ORPHA:100072 NTOS Neurogenic TOS Neurogenic cervical rib syndrome Neurogenic costoclavicular syndrome Neurogenic thoracic outlet compression syndrome Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS. Orphanet ICD-10:G54.0 ICD-11:8B91.Y MONDO:0015061 UMLS:C0751549 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100073 Neurogenic thoracic outlet syndrome Clinical subtype ORPHA:100073 ICD-10:G54.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B91.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015061 E (Exact mapping: the two concepts are equivalent) UMLS:C0751549 E (Exact mapping: the two concepts are equivalent) GNET Gastric NET Gastric neuroendocrine tumor NET of stomach A rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported. Orphanet ICD-10:C16.9 ICD-11:2B72.1 MONDO:0003111 UMLS:C1333783 Not applicable Adult Elderly Europe AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100075 Neuroendocrine tumor of stomach ORPHA:100075 ICD-10:C16.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0003111 E (Exact mapping: the two concepts are equivalent) UMLS:C1333783 E (Exact mapping: the two concepts are equivalent) UMLS:C4525619 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100076 Duodenal neuroendocrine tumor Category ORPHA:100076 UMLS:C4525619 E (Exact mapping: the two concepts are equivalent) Jejunal neuroendocrine neoplasm Jejunal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the jejunum. Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred. Orphanet https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100077 Jejunal neuroendocrine tumor Category ORPHA:100077 Ileal neuroendocrine neoplasm Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred. Orphanet ICD-10:C17.2 ICD-11:2B80.11 MONDO:0015065 UMLS:C4081841 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100078 Ileal neuroendocrine tumor ORPHA:100078 ICD-10:C17.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B80.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015065 E (Exact mapping: the two concepts are equivalent) UMLS:C4081841 E (Exact mapping: the two concepts are equivalent) Appendiceal NEN Appendiceal neuroendocrine neoplasm NEN of appendix A rare sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC). Orphanet ICD-10:C18.1 ICD-10:D37.3 ICD-11:2B81.2 MONDO:0015066 UMLS:C1879718 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100079 Neuroendocrine neoplasm of appendix ORPHA:100079 ICD-10:C18.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:D37.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B81.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015066 E (Exact mapping: the two concepts are equivalent) UMLS:C1879718 E (Exact mapping: the two concepts are equivalent) Colonic NET NET of the colon Neuroendocrine neoplasm of the colon A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities). Orphanet ICD-10:C18.8 ICD-11:2B90.Y MONDO:0002882 UMLS:C1333097 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100080 Neuroendocrine tumor of the colon ORPHA:100080 ICD-10:C18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0002882 E (Exact mapping: the two concepts are equivalent) UMLS:C1333097 E (Exact mapping: the two concepts are equivalent) NET of the rectum Rectal NET Rectal neuroendocrine tumor Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility. Orphanet ICD-10:C20 ICD-11:2B92.1 MONDO:0003646 MedDRA:10085767 UMLS:C5554035 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100081 Neuroendocrine tumor of the rectum ORPHA:100081 ICD-10:C20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B92.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0003646 E (Exact mapping: the two concepts are equivalent) MedDRA:10085767 E (Exact mapping: the two concepts are equivalent) UMLS:C5554035 E (Exact mapping: the two concepts are equivalent) NET of anal canal A are epithelial tumor of the anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise). Orphanet ICD-10:C21.1 ICD-11:2C00.2 MONDO:0015069 UMLS:C3272849 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100082 Neuroendocrine tumor of anal canal ORPHA:100082 ICD-10:C21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C00.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015069 E (Exact mapping: the two concepts are equivalent) UMLS:C3272849 E (Exact mapping: the two concepts are equivalent) A rare head and neck tumor characterized by an epithelial neoplasm with evidence of neuroendocrine differentiation, typically located in the supraglottic larynx. The tumor can be well, moderately, or poorly differentiated, the latter group being subdivided into small cell or large cell neuroendocrine carcinomas. There is a strong association with tobacco use. Patients present with hoarseness, dysphagia, sore throat, airway obstruction, hemoptysis, and rarely a paraneoplastic syndrome due to aberrant hormone production. Poorly differentiated tumors are highly aggressive with high rates of regional and distant metastasis. Orphanet ICD-10:C32.1 ICD-11:2F00.2 MONDO:0015070 UMLS:C5681809 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100083 Laryngeal neuroendocrine tumor ORPHA:100083 ICD-10:C32.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F00.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015070 E (Exact mapping: the two concepts are equivalent) UMLS:C5681809 E (Exact mapping: the two concepts are equivalent) Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis. Orphanet ICD-10:C30.1 ICD-11:2F00.0 MONDO:0015071 UMLS:C4305468 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100084 Middle ear neuroendocrine tumor ORPHA:100084 ICD-10:C30.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F00.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015071 E (Exact mapping: the two concepts are equivalent) UMLS:C4305468 E (Exact mapping: the two concepts are equivalent) Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed. Orphanet ICD-10:C22.7 MONDO:0015072 UMLS:C3273031 Not applicable Adult Worldwide AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100085 Primary hepatic neuroendocrine carcinoma ORPHA:100085 ICD-10:C22.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015072 E (Exact mapping: the two concepts are equivalent) UMLS:C3273031 E (Exact mapping: the two concepts are equivalent) A rare, very aggressive neuroendocrine neoplasm characterized by the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites, and anepithymia. Paraneoplastic syndromes, such as Cushing syndrome, hypercalcemia, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trélat sign, may be associated. Orphanet ICD-10:C23 ICD-11:2C13.Y UMLS:C3273115 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100086 Gallbladder neuroendocrine tumor ORPHA:100086 ICD-10:C23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C13.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C3273115 E (Exact mapping: the two concepts are equivalent) UMLS:C5816813 Europe AND has_annual_incidence_average_value : 5.0 AND has_annual_incidence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 5.35 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 5.7 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 3.2 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100087 Rare thyroid tumor Category ORPHA:100087 UMLS:C5816813 E (Exact mapping: the two concepts are equivalent) UMLS:C5816697 Adult Austria AND has_annual_incidence_average_value : 7.679 AND has_annual_incidence_range : 1-9 / 100 000 Belgium AND has_annual_incidence_average_value : 3.74 AND has_annual_incidence_range : 1-9 / 100 000 Bulgaria AND has_annual_incidence_average_value : 2.921 AND has_annual_incidence_range : 1-9 / 100 000 Croatia AND has_annual_incidence_average_value : 8.329 AND has_annual_incidence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 6.382 AND has_annual_incidence_range : 1-9 / 100 000 Estonia AND has_annual_incidence_average_value : 4.803 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 3.65 AND has_annual_incidence_range : 1-9 / 100 000 Europe AND has_lifetime_prevalence_average_value : 61.7 AND has_lifetime_prevalence_range : 6-9 / 10 000 Finland AND has_annual_incidence_average_value : 6.375 AND has_annual_incidence_range : 1-9 / 100 000 Germany AND has_annual_incidence_average_value : 5.526 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 2.45 AND has_annual_incidence_range : 1-9 / 100 000 Italy AND has_annual_incidence_average_value : 12.86 AND has_annual_incidence_range : 1-5 / 10 000 Latvia AND has_annual_incidence_average_value : 4.563 AND has_annual_incidence_range : 1-9 / 100 000 Lithuania AND has_annual_incidence_average_value : 7.905 AND has_annual_incidence_range : 1-9 / 100 000 Malta AND has_annual_incidence_average_value : 6.344 AND has_annual_incidence_range : 1-9 / 100 000 Netherlands AND has_annual_incidence_average_value : 2.373 AND has_annual_incidence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 4.472 AND has_annual_incidence_range : 1-9 / 100 000 Poland AND has_annual_incidence_average_value : 4.488 AND has_annual_incidence_range : 1-9 / 100 000 Portugal AND has_annual_incidence_average_value : 8.628 AND has_annual_incidence_range : 1-9 / 100 000 Slovakia AND has_annual_incidence_average_value : 3.991 AND has_annual_incidence_range : 1-9 / 100 000 Slovenia AND has_annual_incidence_average_value : 5.649 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_annual_incidence_average_value : 5.162 AND has_annual_incidence_range : 1-9 / 100 000 Switzerland AND has_annual_incidence_average_value : 6.39 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_annual_incidence_average_value : 2.733 AND has_annual_incidence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 12.2 AND has_annual_incidence_range : 1-5 / 10 000 Worldwide AND has_annual_incidence_average_value : 3.1 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 12.7 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100088 Rare thyroid carcinoma Category ORPHA:100088 UMLS:C5816697 E (Exact mapping: the two concepts are equivalent) UMLS:C5681807 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100090 Rare parathyroid tumor Category ORPHA:100090 UMLS:C5681807 E (Exact mapping: the two concepts are equivalent) UMLS:C5681806 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100091 Adrenal/paraganglial tumor Category ORPHA:100091 UMLS:C5681806 E (Exact mapping: the two concepts are equivalent) GEP-NEN UMLS:C1333799 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100092 Gastroenteropancreatic neuroendocrine neoplasm Category ORPHA:100092 UMLS:C1333799 E (Exact mapping: the two concepts are equivalent) Malignant carcinoid syndrome A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves. Orphanet ICD-10:E34.0 ICD-11:5B10 MONDO:0100347 MeSH:D008303 MedDRA:10007270 UMLS:C0024586 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100093 Carcinoid syndrome ORPHA:100093 ICD-10:E34.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5B10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0100347 E (Exact mapping: the two concepts are equivalent) MeSH:D008303 E (Exact mapping: the two concepts are equivalent) MedDRA:10007270 E (Exact mapping: the two concepts are equivalent) UMLS:C0024586 E (Exact mapping: the two concepts are equivalent) ICD-11:2F7A.0 MONDO:0015079 UMLS:C5848154 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100094 Multiple polyglandular tumor Category ORPHA:100094 ICD-11:2F7A.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015079 E (Exact mapping: the two concepts are equivalent) UMLS:C5848154 E (Exact mapping: the two concepts are equivalent) Albright hereditary osteodystrophy type 3 Albright hereditary osteodystrophy-like syndrome Brachydactyly-intellectual disability syndrome Del(2)(q37) Deletion 2q37 Monosomy 2q37qter A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis. Orphanet ICD-10:Q93.5 ICD-11:LD44.20 MONDO:0010886 MeSH:C538317 OMIM:600430 UMLS:C2931817 Autosomal dominant Not applicable Neonatal Worldwide AND has_cases/families_value : 115.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1001 2q37 microdeletion syndrome ORPHA:1001 ICD-10:Q93.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD44.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010886 E (Exact mapping: the two concepts are equivalent) MeSH:C538317 E (Exact mapping: the two concepts are equivalent) OMIM:600430 E (Exact mapping: the two concepts are equivalent) UMLS:C2931817 E (Exact mapping: the two concepts are equivalent) MONDO:0005197 MeSH:D013953 MedDRA:10056296 UMLS:C3714644 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100100 Thymic tumor Category ORPHA:100100 MONDO:0005197 E (Exact mapping: the two concepts are equivalent) MeSH:D013953 E (Exact mapping: the two concepts are equivalent) MedDRA:10056296 E (Exact mapping: the two concepts are equivalent) UMLS:C3714644 E (Exact mapping: the two concepts are equivalent) UMLS:C5681808 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100101 Neuroendocrine tumor with other location Category ORPHA:100101 UMLS:C5681808 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Ciliary neuralgia NON RARE IN EUROPE: Cluster migraine NON RARE IN EUROPE: Erythromelalgia of the head NON RARE IN EUROPE: Erythroprosopalgia of Bing NON RARE IN EUROPE: Histamine cephalalgia NON RARE IN EUROPE: Histamine headache NON RARE IN EUROPE: Histaminic cephalalgia NON RARE IN EUROPE: Horton headache NON RARE IN EUROPE: Migrainous neuralgia NON RARE IN EUROPE: Red migraine This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:G44.0 NON RARE IN EUROPE: Cluster headache ORPHA:1002 ICD-10:G44.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:Q87.2 MONDO:0008403 MeSH:C536622 OMIM:181250 UMLS:C4511971 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1003 Historical entity Scalp defects-postaxial polydactyly syndrome ORPHA:1003 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0008403 E (Exact mapping: the two concepts are equivalent) MeSH:C536622 E (Exact mapping: the two concepts are equivalent) OMIM:181250 E (Exact mapping: the two concepts are equivalent) UMLS:C4511971 E (Exact mapping: the two concepts are equivalent) ACD-intellectual disability syndrome A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MONDO:0008754 MeSH:C537051 OMIM:203550 UMLS:C4303742 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1005 Alopecia-contractures-dwarfism-intellectual disability syndrome ORPHA:1005 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008754 E (Exact mapping: the two concepts are equivalent) MeSH:C537051 E (Exact mapping: the two concepts are equivalent) OMIM:203550 E (Exact mapping: the two concepts are equivalent) UMLS:C4303742 E (Exact mapping: the two concepts are equivalent) Ipp-Gelfand syndrome A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976. Orphanet ICD-10:D80.8 MONDO:0015082 UMLS:C5190867 Unknown Childhood Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1006 Historical entity Alopecia antibody deficiency ORPHA:1006 ICD-10:D80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015082 E (Exact mapping: the two concepts are equivalent) UMLS:C5190867 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Gonorrhea ORPHA:100642 Shokeir syndrome A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. Orphanet ICD-10:Q87.8 ICD-11:LD90.Y MONDO:0007085 MeSH:C537057 OMIM:104130 UMLS:C1863090 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome ORPHA:1008 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007085 E (Exact mapping: the two concepts are equivalent) MeSH:C537057 E (Exact mapping: the two concepts are equivalent) OMIM:104130 E (Exact mapping: the two concepts are equivalent) UMLS:C1863090 E (Exact mapping: the two concepts are equivalent) ALAD porphyria Porphyria due to ALAD deficiency Porphyria due to delta-aminolevulinate dehydratase deficiency Porphyria of Doss A rare acute hepatic porphyria characterized by neurovisceral attacks without skin symptoms. Orphanet ICD-10:E80.2 ICD-11:5C58.1Y MONDO:0013000 OMIM:612740 UMLS:C0268328 Autosomal recessive Adolescent Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100924 Porphyria due to ALA dehydratase deficiency ORPHA:100924 ICD-10:E80.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C58.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0013000 E (Exact mapping: the two concepts are equivalent) OMIM:612740 E (Exact mapping: the two concepts are equivalent) UMLS:C0268328 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare ophthalmic disorder with cranial nerve involvement OBSOLETE: Nuclear oculomotor paralysis ORPHA:100932 Intellectual disability associated with fragile site FRAXE A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported. Orphanet ICD-10:Q99.2 ICD-11:LD90.Y MONDO:0010659 OMIM:309548 UMLS:C4274328 X-linked recessive Antenatal Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100973 FRAXE intellectual disability ORPHA:100973 ICD-10:Q99.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010659 E (Exact mapping: the two concepts are equivalent) OMIM:309548 E (Exact mapping: the two concepts are equivalent) UMLS:C4274328 E (Exact mapping: the two concepts are equivalent) FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. Orphanet ICD-10:Q99.2 MONDO:0015084 UMLS:C4274329 Unknown Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100974 FRAXF syndrome ORPHA:100974 ICD-10:Q99.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015084 E (Exact mapping: the two concepts are equivalent) UMLS:C4274329 E (Exact mapping: the two concepts are equivalent) BSI Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body. Orphanet ICD-10:Q80.2 ICD-11:EC20.02 MONDO:0015085 OMIM:242300 UMLS:C4511230 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100976 Bathing suit ichthyosis ORPHA:100976 ICD-10:Q80.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC20.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015085 E (Exact mapping: the two concepts are equivalent) OMIM:242300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4511230 E (Exact mapping: the two concepts are equivalent) Benallegue-Lacete syndrome A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. Orphanet ICD-10:Q87.5 ICD-11:LD24.GY MONDO:0015086 UMLS:C5190852 Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100978 Historical entity Cloverleaf skull-asphyxiating thoracic dysplasia syndrome ORPHA:100978 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015086 E (Exact mapping: the two concepts are equivalent) UMLS:C5190852 E (Exact mapping: the two concepts are equivalent) Autosomal dominant complex HSP Autosomal dominant complex SPG Autosomal dominant complicated HSP Autosomal dominant complicated SPG Autosomal dominant complicated spastic paraplegia MONDO:0015087 UMLS:C5680379 Autosomal dominant Europe AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100979 Autosomal dominant complex spastic paraplegia Clinical group ORPHA:100979 MONDO:0015087 E (Exact mapping: the two concepts are equivalent) UMLS:C5680379 E (Exact mapping: the two concepts are equivalent) Autosomal dominant pure HSP Autosomal dominant pure SPG Autosomal dominant uncomplicated HSP Autosomal dominant uncomplicated SPG Autosomal dominant uncomplicated spastic paraplegia UMLS:C5680378 Autosomal dominant Europe AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_average_value : 0.9 AND has_point_prevalence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100980 Autosomal dominant pure spastic paraplegia Clinical group ORPHA:100980 UMLS:C5680378 E (Exact mapping: the two concepts are equivalent) Autosomal recessive complex HSP Autosomal recessive complex SPG Autosomal recessive complicated HSP Autosomal recessive complicated SPG Autosomal recessive complicated spastic paraplegia UMLS:C5680377 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100981 Autosomal recessive complex spastic paraplegia Clinical group ORPHA:100981 UMLS:C5680377 E (Exact mapping: the two concepts are equivalent) Autosomal recessive pure HSP Autosomal recessive pure SPG Autosomal recessive uncomplicated HSP Autosomal recessive uncomplicated SPG Autosomal recessive uncomplicated spastic paraplegia UMLS:C5680376 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100982 Autosomal recessive pure spastic paraplegia Clinical group ORPHA:100982 UMLS:C5680376 E (Exact mapping: the two concepts are equivalent) Autosomal dominant spastic paraplegia type 3A SPG3A Strümpell disease A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with <i>pes cavus</i>, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MeSH:C536864 OMIM:182600 UMLS:C2931355 Autosomal dominant Adult Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Portugal AND has_point_prevalence_average_value : 0.14 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100984 Autosomal dominant spastic paraplegia type 3 ORPHA:100984 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C536864 E (Exact mapping: the two concepts are equivalent) OMIM:182600 E (Exact mapping: the two concepts are equivalent) UMLS:C2931355 E (Exact mapping: the two concepts are equivalent) SPG4 A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MONDO:0008438 MeSH:C536865 OMIM:182601 UMLS:C1866855 Autosomal dominant Adolescent Adult Childhood Infancy Portugal AND has_point_prevalence_average_value : 0.91 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100985 Autosomal dominant spastic paraplegia type 4 ORPHA:100985 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008438 E (Exact mapping: the two concepts are equivalent) MeSH:C536865 E (Exact mapping: the two concepts are equivalent) OMIM:182601 E (Exact mapping: the two concepts are equivalent) UMLS:C1866855 E (Exact mapping: the two concepts are equivalent) SPG5A Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MONDO:0010047 MeSH:C564811 OMIM:270800 UMLS:C1849115 Autosomal recessive Adolescent Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100986 Autosomal recessive spastic paraplegia type 5A ORPHA:100986 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010047 E (Exact mapping: the two concepts are equivalent) MeSH:C564811 E (Exact mapping: the two concepts are equivalent) OMIM:270800 E (Exact mapping: the two concepts are equivalent) UMLS:C1849115 E (Exact mapping: the two concepts are equivalent) SPG6 A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and <i>pes cavus</i>. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MONDO:0010878 MeSH:C536866 OMIM:600363 UMLS:C1838192 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100988 Autosomal dominant spastic paraplegia type 6 ORPHA:100988 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010878 E (Exact mapping: the two concepts are equivalent) MeSH:C536866 E (Exact mapping: the two concepts are equivalent) OMIM:600363 E (Exact mapping: the two concepts are equivalent) UMLS:C1838192 E (Exact mapping: the two concepts are equivalent) SPG8 A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MONDO:0011339 MeSH:C580458 OMIM:603563 UMLS:C1863704 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100989 Autosomal dominant spastic paraplegia type 8 ORPHA:100989 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011339 E (Exact mapping: the two concepts are equivalent) MeSH:C580458 E (Exact mapping: the two concepts are equivalent) OMIM:603563 E (Exact mapping: the two concepts are equivalent) UMLS:C1863704 E (Exact mapping: the two concepts are equivalent) OBSOLETE: SPG9 This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Autosomal dominant complex spastic paraplegia OBSOLETE: Autosomal dominant spastic paraplegia type 9 ORPHA:100990 SPG10 A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MONDO:0011408 MeSH:C537482 OMIM:604187 UMLS:C1858712 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100991 Autosomal dominant spastic paraplegia type 10 ORPHA:100991 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011408 E (Exact mapping: the two concepts are equivalent) MeSH:C537482 E (Exact mapping: the two concepts are equivalent) OMIM:604187 E (Exact mapping: the two concepts are equivalent) UMLS:C1858712 E (Exact mapping: the two concepts are equivalent) SPG12 A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MONDO:0011489 MeSH:C537484 OMIM:604805 UMLS:C1858106 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100993 Autosomal dominant spastic paraplegia type 12 ORPHA:100993 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011489 E (Exact mapping: the two concepts are equivalent) MeSH:C537484 E (Exact mapping: the two concepts are equivalent) OMIM:604805 E (Exact mapping: the two concepts are equivalent) UMLS:C1858106 E (Exact mapping: the two concepts are equivalent) SPG13 A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MONDO:0011532 MeSH:C537485 OMIM:605280 UMLS:C1854467 Autosomal dominant Adolescent Adult Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100994 Autosomal dominant spastic paraplegia type 13 ORPHA:100994 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011532 E (Exact mapping: the two concepts are equivalent) MeSH:C537485 E (Exact mapping: the two concepts are equivalent) OMIM:605280 E (Exact mapping: the two concepts are equivalent) UMLS:C1854467 E (Exact mapping: the two concepts are equivalent) SPG14 Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MONDO:0011522 MeSH:C537486 OMIM:605229 UMLS:C1854568 Autosomal recessive Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100995 Autosomal recessive spastic paraplegia type 14 ORPHA:100995 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011522 E (Exact mapping: the two concepts are equivalent) MeSH:C537486 E (Exact mapping: the two concepts are equivalent) OMIM:605229 E (Exact mapping: the two concepts are equivalent) UMLS:C1854568 E (Exact mapping: the two concepts are equivalent) Hereditary spastic paraparesis type 15 Kjellin syndrome SPG15 Spastic paraplegia-retinal degeneration syndrome Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MONDO:0010044 MeSH:C536642 OMIM:270700 UMLS:C1849128 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100996 Autosomal recessive spastic paraplegia type 15 ORPHA:100996 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010044 E (Exact mapping: the two concepts are equivalent) MeSH:C536642 E (Exact mapping: the two concepts are equivalent) OMIM:270700 E (Exact mapping: the two concepts are equivalent) UMLS:C1849128 E (Exact mapping: the two concepts are equivalent) SPG16 A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males. Orphanet ICD-10:G11.4 ICD-11:8B44.02 MONDO:0010287 MeSH:C536643 OMIM:300266 UMLS:C1846046 X-linked recessive Infancy Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100997 X-linked spastic paraplegia type 16 ORPHA:100997 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010287 E (Exact mapping: the two concepts are equivalent) MeSH:C536643 E (Exact mapping: the two concepts are equivalent) OMIM:300266 E (Exact mapping: the two concepts are equivalent) UMLS:C1846046 E (Exact mapping: the two concepts are equivalent) SPG17 Silver syndrome Spastic paraplegia-amyotrophy of hands and feet A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MONDO:0010043 MeSH:C536644 OMIM:270685 UMLS:C2931276 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 20.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100998 Autosomal dominant spastic paraplegia type 17 ORPHA:100998 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010043 E (Exact mapping: the two concepts are equivalent) MeSH:C536644 E (Exact mapping: the two concepts are equivalent) OMIM:270685 E (Exact mapping: the two concepts are equivalent) UMLS:C2931276 E (Exact mapping: the two concepts are equivalent) SPG19 A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MONDO:0011785 MeSH:C536856 OMIM:607152 UMLS:C1846685 Autosomal dominant Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=100999 Autosomal dominant spastic paraplegia type 19 ORPHA:100999 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011785 E (Exact mapping: the two concepts are equivalent) MeSH:C536856 E (Exact mapping: the two concepts are equivalent) OMIM:607152 E (Exact mapping: the two concepts are equivalent) UMLS:C1846685 E (Exact mapping: the two concepts are equivalent) DRPLA Dentatorubropallidoluysian atrophy Naito-Oyanagi disease A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation. Orphanet ICD-10:G11.8 ICD-11:8A01.12 MONDO:0007435 MedDRA:10075298 OMIM:125370 UMLS:C0751781 Autosomal dominant All ages Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 0.48 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.71 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101 Dentatorubral pallidoluysian atrophy ORPHA:101 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A01.12 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0007435 E (Exact mapping: the two concepts are equivalent) MedDRA:10075298 E (Exact mapping: the two concepts are equivalent) OMIM:125370 E (Exact mapping: the two concepts are equivalent) UMLS:C0751781 E (Exact mapping: the two concepts are equivalent) Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia PPK-CA, Stevanovic type Palmoplantar keratoderma and congenital alopecia, Stevanovic type A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Orphanet ICD-10:Q82.8 ICD-11:LD27.0Y MONDO:0007083 OMIM:104100 UMLS:C4304669 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia ORPHA:1010 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007083 E (Exact mapping: the two concepts are equivalent) OMIM:104100 E (Exact mapping: the two concepts are equivalent) UMLS:C4304669 E (Exact mapping: the two concepts are equivalent) Childhood-onset spastic paraparesis-distal muscle wasting syndrome SPG20 Troyer syndrome Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the <i>SPG20</i> gene (13q13.1), which encodes the protein spartin. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MONDO:0010156 MeSH:C536858 OMIM:275900 UMLS:C0393559 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 36.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101000 Autosomal recessive spastic paraplegia type 20 ORPHA:101000 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010156 E (Exact mapping: the two concepts are equivalent) MeSH:C536858 E (Exact mapping: the two concepts are equivalent) OMIM:275900 E (Exact mapping: the two concepts are equivalent) UMLS:C0393559 E (Exact mapping: the two concepts are equivalent) Mast syndrome SPG21 Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MONDO:0009568 MeSH:C565409 OMIM:248900 UMLS:C1855346 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 35.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101001 Autosomal recessive spastic paraplegia type 21 ORPHA:101001 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0009568 E (Exact mapping: the two concepts are equivalent) MeSH:C565409 E (Exact mapping: the two concepts are equivalent) OMIM:248900 E (Exact mapping: the two concepts are equivalent) UMLS:C1855346 E (Exact mapping: the two concepts are equivalent) Lison syndrome SPG23 Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MONDO:0010046 MeSH:C536859 OMIM:270750 UMLS:C0796019 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101003 Autosomal recessive spastic paraplegia type 23 ORPHA:101003 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010046 E (Exact mapping: the two concepts are equivalent) MeSH:C536859 E (Exact mapping: the two concepts are equivalent) OMIM:270750 E (Exact mapping: the two concepts are equivalent) UMLS:C0796019 E (Exact mapping: the two concepts are equivalent) SPG24 A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MONDO:0011862 MeSH:C564375 OMIM:607584 UMLS:C1843569 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101004 Autosomal recessive spastic paraplegia type 24 ORPHA:101004 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011862 E (Exact mapping: the two concepts are equivalent) MeSH:C564375 E (Exact mapping: the two concepts are equivalent) OMIM:607584 E (Exact mapping: the two concepts are equivalent) UMLS:C1843569 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spastic paraplegia-disc herniation syndrome SPG25 Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MONDO:0011992 MeSH:C536861 OMIM:608220 UMLS:C2936860 Autosomal recessive Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101005 Autosomal recessive spastic paraplegia type 25 ORPHA:101005 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011992 E (Exact mapping: the two concepts are equivalent) MeSH:C536861 E (Exact mapping: the two concepts are equivalent) OMIM:608220 E (Exact mapping: the two concepts are equivalent) UMLS:C2936860 E (Exact mapping: the two concepts are equivalent) GM2 synthase deficiency SPG26 Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the <i>B4GALNT1</i> gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MONDO:0012213 MeSH:C536862 OMIM:609195 UMLS:C1836632 Autosomal recessive Adolescent Childhood Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101006 Autosomal recessive spastic paraplegia type 26 ORPHA:101006 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012213 E (Exact mapping: the two concepts are equivalent) MeSH:C536862 E (Exact mapping: the two concepts are equivalent) OMIM:609195 E (Exact mapping: the two concepts are equivalent) UMLS:C1836632 E (Exact mapping: the two concepts are equivalent) SPG27 Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MONDO:0012181 MeSH:C563807 OMIM:609041 UMLS:C1836899 Autosomal recessive Adolescent Adult Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101007 Autosomal recessive spastic paraplegia type 27 ORPHA:101007 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012181 E (Exact mapping: the two concepts are equivalent) MeSH:C563807 E (Exact mapping: the two concepts are equivalent) OMIM:609041 E (Exact mapping: the two concepts are equivalent) UMLS:C1836899 E (Exact mapping: the two concepts are equivalent) SPG28 Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs. Orphanet ICD-10:G11.4 ICD-11:8B44.01 MONDO:0012256 MeSH:C563732 OMIM:609340 UMLS:C1836295 Autosomal recessive Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101008 Autosomal recessive spastic paraplegia type 28 ORPHA:101008 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012256 E (Exact mapping: the two concepts are equivalent) MeSH:C563732 E (Exact mapping: the two concepts are equivalent) OMIM:609340 E (Exact mapping: the two concepts are equivalent) UMLS:C1836295 E (Exact mapping: the two concepts are equivalent) SPG29 A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MONDO:0012334 MeSH:C536863 OMIM:609727 UMLS:C1857855 Autosomal dominant Adolescent Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101009 Autosomal dominant spastic paraplegia type 29 ORPHA:101009 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012334 E (Exact mapping: the two concepts are equivalent) MeSH:C536863 E (Exact mapping: the two concepts are equivalent) OMIM:609727 E (Exact mapping: the two concepts are equivalent) UMLS:C1857855 E (Exact mapping: the two concepts are equivalent) SPG30 A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. Orphanet ICD-10:G11.4 ICD-11:8B44.0Y MONDO:0012476 OMIM:610357 UMLS:C5235139 Autosomal dominant Autosomal recessive Adolescent Adult Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101010 Autosomal spastic paraplegia type 30 ORPHA:101010 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0012476 E (Exact mapping: the two concepts are equivalent) OMIM:610357 E (Exact mapping: the two concepts are equivalent) UMLS:C5235139 E (Exact mapping: the two concepts are equivalent) SPG31 A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. Orphanet ICD-10:G11.4 ICD-11:8B44.00 MONDO:0012453 MeSH:C565210 OMIM:610250 UMLS:C1853247 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101011 Autosomal dominant spastic paraplegia type 31 ORPHA:101011 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B44.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012453 E (Exact mapping: the two concepts are equivalent) MeSH:C565210 E (Exact mapping: the two concepts are equivalent) OMIM:610250 E (Exact mapping: the two concepts are equivalent) UMLS:C1853247 E (Exact mapping: the two concepts are equivalent) Romano-Ward long QT syndrome A form of familial long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia). Orphanet ICD-10:I45.8 ICD-11:BC65.0 MeSH:D029597 MedDRA:10039211 OMIM:192500 OMIM:600919 OMIM:603830 OMIM:611818 OMIM:611819 OMIM:611820 OMIM:612955 OMIM:613485 OMIM:613688 OMIM:613693 OMIM:613695 OMIM:616247 OMIM:616249 UMLS:C4551647 Autosomal dominant Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101016 Romano-Ward syndrome ORPHA:101016 ICD-10:I45.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC65.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MeSH:D029597 E (Exact mapping: the two concepts are equivalent) MedDRA:10039211 E (Exact mapping: the two concepts are equivalent) OMIM:192500 E (Exact mapping: the two concepts are equivalent) OMIM:600919 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603830 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611818 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611819 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611820 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612955 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613485 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613688 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613693 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613695 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616247 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616249 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4551647 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Sitosterolemia UMLS:C0272281 Mediterranean macrothrombocytopenia ORPHA:101022 UMLS:C0272281 E (Exact mapping: the two concepts are equivalent) ICD-10:Q35.1 ICD-11:LA42.0 MONDO:0015092 UMLS:C0432090 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101023 Cleft hard palate ORPHA:101023 ICD-10:Q35.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA42.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015092 E (Exact mapping: the two concepts are equivalent) UMLS:C0432090 E (Exact mapping: the two concepts are equivalent) TALDO deficiency Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. Orphanet ICD-10:E74.8 ICD-11:5C51.0 MONDO:0011624 MeSH:C563207 OMIM:606003 UMLS:C1291329 Autosomal recessive Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 23.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101028 Transaldolase deficiency ORPHA:101028 ICD-10:E74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011624 E (Exact mapping: the two concepts are equivalent) MeSH:C563207 E (Exact mapping: the two concepts are equivalent) OMIM:606003 E (Exact mapping: the two concepts are equivalent) UMLS:C1291329 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.8 ICD-11:LA05.5Y MONDO:0015093 UMLS:C5681805 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101029 Sub-cortical nodular heterotopia Clinical subtype ORPHA:101029 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015093 E (Exact mapping: the two concepts are equivalent) UMLS:C5681805 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.8 ICD-11:LA05.5Y MONDO:0015094 MedDRA:10071150 UMLS:C3160906 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101030 Subependymal nodular heterotopia Clinical subtype ORPHA:101030 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015094 E (Exact mapping: the two concepts are equivalent) MedDRA:10071150 E (Exact mapping: the two concepts are equivalent) UMLS:C3160906 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Peters anomaly OBSOLETE: Peters anomaly-cataract syndrome ORPHA:101033 This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Cleft lip/palate-ectodermal dysplasia syndrome OBSOLETE: Zlotogura-Martinez syndrome ORPHA:101036 EFMR Juberg-Hellman syndrome Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. Orphanet ICD-10:G40.8 ICD-11:8A61.1Y MONDO:0010246 MeSH:C564715 OMIM:300088 UMLS:C1848137 Unknown Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101039 Female restricted epilepsy with intellectual disability ORPHA:101039 ICD-10:G40.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010246 E (Exact mapping: the two concepts are equivalent) MeSH:C564715 E (Exact mapping: the two concepts are equivalent) OMIM:300088 E (Exact mapping: the two concepts are equivalent) UMLS:C1848137 E (Exact mapping: the two concepts are equivalent) Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration. Orphanet ICD-10:D68.2 ICD-11:3B14.0 MONDO:0015096 OMIM:202400 UMLS:C5681803 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101041 Familial hypofibrinogenemia Clinical subtype ORPHA:101041 ICD-10:D68.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3B14.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015096 E (Exact mapping: the two concepts are equivalent) OMIM:202400 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5681803 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Double outlet right ventricle with subpulmonary ventricular septal defect OBSOLETE: Taussig-Bing syndrome ORPHA:101042 ICD-10:Q23.0 UMLS:C5397239 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101043 Congenital aortic valve dysplasia Clinical subtype ORPHA:101043 ICD-10:Q23.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C5397239 E (Exact mapping: the two concepts are equivalent) ADEAF ADLTE ADPEAF Autosomal dominant epilepsy with auditory features Autosomal dominant lateral temporal lobe epilepsy EAF Partial epilepsy with auditory aura Partial epilepsy with auditory features A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution. Orphanet ICD-10:G40.0 ICD-11:8A61.3Y MONDO:0010898 MeSH:C537297 OMIM:600512 OMIM:616436 OMIM:616461 UMLS:C1838062 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101046 Epilepsy with auditory features ORPHA:101046 ICD-10:G40.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A61.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010898 E (Exact mapping: the two concepts are equivalent) MeSH:C537297 E (Exact mapping: the two concepts are equivalent) OMIM:600512 E (Exact mapping: the two concepts are equivalent) OMIM:616436 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616461 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1838062 E (Exact mapping: the two concepts are equivalent) FHH type 2 ICD-10:E83.5 ICD-11:5A51.2 MONDO:0007792 MeSH:C537146 OMIM:145981 UMLS:C1840347 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101049 Familial hypocalciuric hypercalcemia type 2 Etiological subtype ORPHA:101049 ICD-10:E83.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A51.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0007792 E (Exact mapping: the two concepts are equivalent) MeSH:C537146 E (Exact mapping: the two concepts are equivalent) OMIM:145981 E (Exact mapping: the two concepts are equivalent) UMLS:C1840347 E (Exact mapping: the two concepts are equivalent) FHH type 3 ICD-10:E83.5 ICD-11:5A51.2 MONDO:0010926 MeSH:C537147 OMIM:600740 UMLS:C1833372 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101050 Familial hypocalciuric hypercalcemia type 3 Etiological subtype ORPHA:101050 ICD-10:E83.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A51.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0010926 E (Exact mapping: the two concepts are equivalent) MeSH:C537147 E (Exact mapping: the two concepts are equivalent) OMIM:600740 E (Exact mapping: the two concepts are equivalent) UMLS:C1833372 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Microlissencephaly OBSOLETE: Microlissencephaly type B ORPHA:101052 Complete situs inversus Complete situs inversus viscerum Situs inversus A rare, genetic, developmental defect during embryogenesis characterized by total mirror-image transposition of both thoracic and abdominal viscera across the left-right axis of the body. Congenital abnormalities, such as primary ciliary dyskinesia, Kartagener type, polysplenia syndrome, biliary atresia, congenital heart disease, and midgut malrotation, as well as vascular anomalies (e.g. absence of retrohepatic inferior vena cava, preduodenal portal vein, aberrant hepatic arterial anatomy) and malignancy, are frequently associated. Orphanet ICD-10:Q89.3 ICD-11:LA82 MONDO:0010029 UMLS:C0037221 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101063 Situs inversus totalis ORPHA:101063 ICD-10:Q89.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA82 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0010029 E (Exact mapping: the two concepts are equivalent) UMLS:C0037221 E (Exact mapping: the two concepts are equivalent) CSCD Congenital hereditary stromal dystrophy Witschel dystrophy Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss. Orphanet ICD-10:H18.5 ICD-11:9A70.Y MONDO:0012401 MeSH:C566452 OMIM:610048 UMLS:C1864738 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101068 Congenital stromal corneal dystrophy ORPHA:101068 ICD-10:H18.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012401 E (Exact mapping: the two concepts are equivalent) MeSH:C566452 E (Exact mapping: the two concepts are equivalent) OMIM:610048 E (Exact mapping: the two concepts are equivalent) UMLS:C1864738 E (Exact mapping: the two concepts are equivalent) Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. Orphanet ICD-10:Q04.3 ICD-11:LA05.50 MONDO:0011738 MeSH:C564652 OMIM:606854 UMLS:C1847352 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101070 Bilateral frontoparietal polymicrogyria Clinical subtype ORPHA:101070 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011738 E (Exact mapping: the two concepts are equivalent) MeSH:C564652 E (Exact mapping: the two concepts are equivalent) OMIM:606854 E (Exact mapping: the two concepts are equivalent) UMLS:C1847352 E (Exact mapping: the two concepts are equivalent) ICD-10:Q04.3 ICD-11:LA05.50 MONDO:0015099 UMLS:C5681804 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101071 Unilateral hemispheric polymicrogyria Clinical subtype ORPHA:101071 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.50 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015099 E (Exact mapping: the two concepts are equivalent) UMLS:C5681804 E (Exact mapping: the two concepts are equivalent) CMT1X CMTX1 A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and adolescence onset in males of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and (often transient) central nervous system involvement have also been reported. Orphanet ICD-10:G60.0 ICD-11:8C20.0 MONDO:0010549 MeSH:C535919 OMIM:302800 UMLS:C0393808 X-linked dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101075 X-linked Charcot-Marie-Tooth disease type 1 ORPHA:101075 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010549 E (Exact mapping: the two concepts are equivalent) MeSH:C535919 E (Exact mapping: the two concepts are equivalent) OMIM:302800 E (Exact mapping: the two concepts are equivalent) UMLS:C0393808 E (Exact mapping: the two concepts are equivalent) CMTX2 A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile-to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. Orphanet ICD-10:G60.0 ICD-11:LD90.Y MONDO:0010550 MeSH:C535302 OMIM:302801 UMLS:C1844873 X-linked recessive Childhood Infancy Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101076 X-linked Charcot-Marie-Tooth disease type 2 ORPHA:101076 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010550 E (Exact mapping: the two concepts are equivalent) MeSH:C535302 E (Exact mapping: the two concepts are equivalent) OMIM:302801 E (Exact mapping: the two concepts are equivalent) UMLS:C1844873 E (Exact mapping: the two concepts are equivalent) CMT3X CMTX3 A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Orphanet ICD-10:G60.0 ICD-11:LD90.Y MONDO:0010551 MeSH:C535303 OMIM:302802 UMLS:C1844865 X-linked recessive Adolescent Childhood Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101077 X-linked Charcot-Marie-Tooth disease type 3 ORPHA:101077 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010551 E (Exact mapping: the two concepts are equivalent) MeSH:C535303 E (Exact mapping: the two concepts are equivalent) OMIM:302802 E (Exact mapping: the two concepts are equivalent) UMLS:C1844865 E (Exact mapping: the two concepts are equivalent) CMT4X CMTX4 Cowchock syndrome A rare genetic, axonal, peripheral sensorimotor neuropathy, characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. Orphanet ICD-10:G60.0 ICD-11:LD90.Y MONDO:0010689 MeSH:C536450 OMIM:310490 UMLS:C0795910 X-linked recessive Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101078 X-linked Charcot-Marie-Tooth disease type 4 ORPHA:101078 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010689 E (Exact mapping: the two concepts are equivalent) MeSH:C536450 E (Exact mapping: the two concepts are equivalent) OMIM:310490 E (Exact mapping: the two concepts are equivalent) UMLS:C0795910 E (Exact mapping: the two concepts are equivalent) CMT1A Microduplication 17p12 ICD-10:G60.0 ICD-11:LD41.G1 MONDO:0007309 OMIM:118220 UMLS:C0270911 Autosomal dominant Childhood Norway AND has_point_prevalence_average_value : 82.37 AND has_point_prevalence_range : 6-9 / 10 000 United Kingdom AND has_point_prevalence_average_value : 15.2 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101081 Charcot-Marie-Tooth disease type 1A ORPHA:101081 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.G1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007309 E (Exact mapping: the two concepts are equivalent) OMIM:118220 E (Exact mapping: the two concepts are equivalent) UMLS:C0270911 E (Exact mapping: the two concepts are equivalent) CMT1B Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1, caused by mutations in the <i>MPZ</i> gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome, or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases. Orphanet ICD-10:G60.0 ICD-11:8C20.0 MONDO:0007307 OMIM:118200 UMLS:C0270912 Autosomal dominant Adolescent Adult Childhood Infancy Worldwide AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101082 Charcot-Marie-Tooth disease type 1B ORPHA:101082 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007307 E (Exact mapping: the two concepts are equivalent) OMIM:118200 E (Exact mapping: the two concepts are equivalent) UMLS:C0270912 E (Exact mapping: the two concepts are equivalent) CMT1C A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes. Orphanet ICD-10:G60.0 ICD-11:8C20.0 MONDO:0010995 MeSH:C537984 OMIM:601098 UMLS:C0270913 Autosomal dominant Adolescent Adult Childhood Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101083 Charcot-Marie-Tooth disease type 1C ORPHA:101083 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010995 E (Exact mapping: the two concepts are equivalent) MeSH:C537984 E (Exact mapping: the two concepts are equivalent) OMIM:601098 E (Exact mapping: the two concepts are equivalent) UMLS:C0270913 E (Exact mapping: the two concepts are equivalent) CMT1D Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1, caused by mutations in the <i>EGR2</i> gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. Orphanet ICD-10:G60.0 ICD-11:8C20.0 MONDO:0011890 MeSH:C537985 OMIM:607678 UMLS:C1843247 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101084 Charcot-Marie-Tooth disease type 1D ORPHA:101084 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011890 E (Exact mapping: the two concepts are equivalent) MeSH:C537985 E (Exact mapping: the two concepts are equivalent) OMIM:607678 E (Exact mapping: the two concepts are equivalent) UMLS:C1843247 E (Exact mapping: the two concepts are equivalent) CMT1F Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the <i>NEFL</i> gene (8p21.2). Orphanet ICD-10:G60.0 ICD-11:8C20.0 MONDO:0011902 MeSH:C537987 OMIM:607734 UMLS:C1843164 Autosomal dominant Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101085 Charcot-Marie-Tooth disease type 1F ORPHA:101085 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011902 E (Exact mapping: the two concepts are equivalent) MeSH:C537987 E (Exact mapping: the two concepts are equivalent) OMIM:607734 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1843164 E (Exact mapping: the two concepts are equivalent) HIGM1 Hyper-IgM syndrome due to CD40 ligand deficiency Hyper-IgM syndrome due to CD40L deficiency Hyper-IgM syndrome type 1 XHIGM ICD-10:D80.5 ICD-11:4A01.1Y MONDO:0010626 MeSH:D053307 OMIM:308230 UMLS:C0398689 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101088 X-linked hyper-IgM syndrome Clinical subtype ORPHA:101088 ICD-10:D80.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010626 E (Exact mapping: the two concepts are equivalent) MeSH:D053307 E (Exact mapping: the two concepts are equivalent) OMIM:308230 E (Exact mapping: the two concepts are equivalent) UMLS:C0398689 E (Exact mapping: the two concepts are equivalent) AID deficiency Activation-induced cytidine deaminase deficiency HIGM2 ICD-10:D80.5 ICD-11:4A01.05 MONDO:0011528 OMIM:605258 UMLS:C1720956 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101089 Hyper-IgM syndrome type 2 Clinical subtype ORPHA:101089 ICD-10:D80.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.05 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011528 E (Exact mapping: the two concepts are equivalent) OMIM:605258 E (Exact mapping: the two concepts are equivalent) UMLS:C1720956 E (Exact mapping: the two concepts are equivalent) HIGM3 Hyper-IgM syndrome due to CD40 deficiency ICD-10:D80.5 ICD-11:4A01.1Y MONDO:0011735 OMIM:606843 UMLS:C1720957 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101090 Hyper-IgM syndrome type 3 Clinical subtype ORPHA:101090 ICD-10:D80.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011735 E (Exact mapping: the two concepts are equivalent) OMIM:606843 E (Exact mapping: the two concepts are equivalent) UMLS:C1720957 E (Exact mapping: the two concepts are equivalent) HIGM4 ICD-10:D80.5 ICD-11:4A01.1Y MONDO:0011985 MeSH:C564277 OMIM:608184 UMLS:C1842413 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101091 Hyper-IgM syndrome type 4 Clinical subtype ORPHA:101091 ICD-10:D80.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0011985 E (Exact mapping: the two concepts are equivalent) MeSH:C564277 E (Exact mapping: the two concepts are equivalent) OMIM:608184 E (Exact mapping: the two concepts are equivalent) UMLS:C1842413 E (Exact mapping: the two concepts are equivalent) HIGM5 Hyper-IgM syndrome due to UNG deficiency Hyper-IgM syndrome due to uracil N-glycosylase ICD-10:D80.5 ICD-11:4A01.05 MONDO:0011971 OMIM:608106 UMLS:C1720958 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101092 Hyper-IgM syndrome type 5 Clinical subtype ORPHA:101092 ICD-10:D80.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A01.05 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011971 E (Exact mapping: the two concepts are equivalent) OMIM:608106 E (Exact mapping: the two concepts are equivalent) UMLS:C1720958 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Myelodysplastic syndrome OBSOLETE: Aregenerative anemia ORPHA:101096 ARCMT2K Autosomal recessive axonal CMT4C4 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MONDO:0011916 MeSH:C535418 OMIM:607706 OMIM:607831 UMLS:C1842983 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness ORPHA:101097 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011916 E (Exact mapping: the two concepts are equivalent) MeSH:C535418 E (Exact mapping: the two concepts are equivalent) OMIM:607706 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607831 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1842983 E (Exact mapping: the two concepts are equivalent) Devriendt-Legius-Fryns syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Woodhouse-Sakati syndrome MeSH:C537053 UMLS:C2931406 Alopecia-hypogonadism-extrapyramidal syndrome ORPHA:1011 MeSH:C537053 E (Exact mapping: the two concepts are equivalent) UMLS:C2931406 E (Exact mapping: the two concepts are equivalent) AR-CMT2B2 Autosomal recessive axonal CMT4C3 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MONDO:0011570 MeSH:C537991 OMIM:605589 UMLS:C1854150 Autosomal recessive Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101101 Charcot-Marie-Tooth disease type 2B2 ORPHA:101101 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011570 E (Exact mapping: the two concepts are equivalent) MeSH:C537991 E (Exact mapping: the two concepts are equivalent) OMIM:605589 E (Exact mapping: the two concepts are equivalent) UMLS:C1854150 E (Exact mapping: the two concepts are equivalent) AR-CMT2C Autosomal recessive axonal CMT4C2 Axonal Charcot-Marie-Tooth disease with pyramidal involvement CMT2H Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement. Orphanet ICD-10:G60.0 ICD-11:8C20.1 MONDO:0011901 MeSH:C535415 OMIM:607731 UMLS:C1843173 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 13.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101102 Charcot-Marie-Tooth disease type 2H ORPHA:101102 ICD-10:G60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011901 E (Exact mapping: the two concepts are equivalent) MeSH:C535415 E (Exact mapping: the two concepts are equivalent) OMIM:607731 E (Exact mapping: the two concepts are equivalent) UMLS:C1843173 E (Exact mapping: the two concepts are equivalent) ICD-10:Q07.8 ICD-11:9A03.00 MONDO:0015101 UMLS:C5681802 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101104 Marin-Amat syndrome Clinical subtype ORPHA:101104 ICD-10:Q07.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A03.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015101 E (Exact mapping: the two concepts are equivalent) UMLS:C5681802 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-functioning paraganglioma OBSOLETE: Non-secreting chemodectoma ORPHA:101106 SCA22 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spinocerebellar ataxia type 19/22 MeSH:C542540 UMLS:C2746067 Spinocerebellar ataxia type 22 ORPHA:101107 MeSH:C542540 E (Exact mapping: the two concepts are equivalent) UMLS:C2746067 E (Exact mapping: the two concepts are equivalent) SCA23 Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. Orphanet ICD-10:G11.2 ICD-11:8A03.16 MONDO:0012449 MeSH:C537201 OMIM:610245 UMLS:C1853250 Autosomal dominant Adult Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101108 Spinocerebellar ataxia type 23 ORPHA:101108 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012449 E (Exact mapping: the two concepts are equivalent) MeSH:C537201 E (Exact mapping: the two concepts are equivalent) OMIM:610245 E (Exact mapping: the two concepts are equivalent) UMLS:C1853250 E (Exact mapping: the two concepts are equivalent) SCA28 Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. Orphanet ICD-10:G11.1 ICD-11:8A03.16 MONDO:0012450 MeSH:C537205 OMIM:610246 UMLS:C1853249 Autosomal dominant Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101109 Spinocerebellar ataxia type 28 ORPHA:101109 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012450 E (Exact mapping: the two concepts are equivalent) MeSH:C537205 E (Exact mapping: the two concepts are equivalent) OMIM:610246 E (Exact mapping: the two concepts are equivalent) UMLS:C1853249 E (Exact mapping: the two concepts are equivalent) SCA20 Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation. Orphanet ICD-10:G11.2 ICD-11:8A03.16 MONDO:0012098 MeSH:C537199 OMIM:608687 UMLS:C1837541 Autosomal dominant Adult Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101110 Spinocerebellar ataxia type 20 ORPHA:101110 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012098 E (Exact mapping: the two concepts are equivalent) MeSH:C537199 E (Exact mapping: the two concepts are equivalent) OMIM:608687 E (Exact mapping: the two concepts are equivalent) UMLS:C1837541 E (Exact mapping: the two concepts are equivalent) SCA25 Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy. Orphanet ICD-10:G11.8 ICD-11:8A03.16 MONDO:0012103 MeSH:C537202 OMIM:608703 UMLS:C1837518 Autosomal dominant All ages Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101111 Spinocerebellar ataxia type 25 ORPHA:101111 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012103 E (Exact mapping: the two concepts are equivalent) MeSH:C537202 E (Exact mapping: the two concepts are equivalent) OMIM:608703 E (Exact mapping: the two concepts are equivalent) UMLS:C1837518 E (Exact mapping: the two concepts are equivalent) SCA26 A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. Orphanet ICD-10:G11.2 ICD-11:8A03.16 MONDO:0012246 MeSH:C537203 OMIM:609306 UMLS:C1836395 Autosomal dominant Adult Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101112 Spinocerebellar ataxia type 26 ORPHA:101112 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.16 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012246 E (Exact mapping: the two concepts are equivalent) MeSH:C537203 E (Exact mapping: the two concepts are equivalent) OMIM:609306 E (Exact mapping: the two concepts are equivalent) UMLS:C1836395 E (Exact mapping: the two concepts are equivalent) Autosomal recessive Segawa syndrome DYT5b Tyrosine hydroxylase deficiency Tyrosine hydroxylase-deficient dopa-responsive dystonia A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. Orphanet ICD-10:G24.1 ICD-11:8A02.11 MONDO:0011551 MeSH:C537537 OMIM:605407 UMLS:C5700309 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 50.0 (Case(s)) https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101150 Autosomal recessive dopa-responsive dystonia ORPHA:101150 ICD-10:G24.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A02.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011551 E (Exact mapping: the two concepts are equivalent) MeSH:C537537 E (Exact mapping: the two concepts are equivalent) OMIM:605407 E (Exact mapping: the two concepts are equivalent) UMLS:C5700309 E (Exact mapping: the two concepts are equivalent) DYT14 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant dopa-responsive dystonia Dystonia 14 ORPHA:101151 APV/ADA, Fallot type Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome PVA/ADA, Fallot type Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. Orphanet ICD-10:Q22.2 ICD-11:LA88.20 MONDO:0015103 UMLS:C4707896 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome ORPHA:101206 ICD-10:Q22.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA88.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015103 E (Exact mapping: the two concepts are equivalent) UMLS:C4707896 E (Exact mapping: the two concepts are equivalent) PCT A rare hepatic porphyria with cutaneous expression (PCT) characterized by bullous photodermatosis. Orphanet ICD-10:E80.1 ICD-11:5C58.10 MONDO:0015104 MeSH:D017119 MedDRA:10036183 OMIM:176090 OMIM:176100 UMLS:C0162566 Autosomal dominant Multigenic/multifactorial Adult Europe AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101330 Porphyria cutanea tarda ORPHA:101330 ICD-10:E80.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5C58.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015104 E (Exact mapping: the two concepts are equivalent) MeSH:D017119 E (Exact mapping: the two concepts are equivalent) MedDRA:10036183 E (Exact mapping: the two concepts are equivalent) OMIM:176090 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:176100 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0162566 E (Exact mapping: the two concepts are equivalent) A rare bacterial infectious disease caused by the tick-borne bacterium <i>Rickettsia africae</i>, characterized by acute onset of fever accompanied by myalgia, localized lymphadenitis, and a papulovesicular rash. In most cases at least one, sometimes multiple, inoculation eschars are observed. Clustering of cases is frequent. Orphanet ICD-10:A77.1 ICD-11:1C31.1 UMLS:C1320317 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101334 African tick typhus ORPHA:101334 ICD-10:A77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:1C31.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C1320317 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Boutonneuse fever OBSOLETE: Indian tick typhus ORPHA:101335 OBSOLETE: Kenya tick-bite fever This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Boutonneuse fever OBSOLETE: Kenya tick typhus ORPHA:101336 This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Boutonneuse fever OBSOLETE: Marseilles fever ORPHA:101337 This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Boutonneuse fever OBSOLETE: Mediterranean spotted fever ORPHA:101338 Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. Orphanet ICD-10:Q89.0 ICD-11:LB22.0 MONDO:0010066 OMIM:271400 UMLS:C4512055 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101351 Familial isolated congenital asplenia ORPHA:101351 ICD-10:Q89.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB22.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0010066 E (Exact mapping: the two concepts are equivalent) OMIM:271400 E (Exact mapping: the two concepts are equivalent) UMLS:C4512055 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Syndrome with a central nervous system malformation as a major feature OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome ORPHA:101356 Devriendt-Vandenberghe-Fryns syndrome A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. Orphanet ICD-10:Q87.8 MONDO:0011019 OMIM:601217 UMLS:C4303740 Unknown Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome ORPHA:1014 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0011019 E (Exact mapping: the two concepts are equivalent) OMIM:601217 E (Exact mapping: the two concepts are equivalent) UMLS:C4303740 E (Exact mapping: the two concepts are equivalent) UMLS:C5681790 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101433 Rare urogenital disease Category Head of classification ORPHA:101433 UMLS:C5681790 E (Exact mapping: the two concepts are equivalent) Rare genetic ophthalmologic disease UMLS:C5680375 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101435 Rare genetic eye disease Category ORPHA:101435 UMLS:C5680375 E (Exact mapping: the two concepts are equivalent) Rare NSID Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits. Orphanet ICD-10:F70 ICD-10:F71 ICD-10:F72 ICD-10:F73 MONDO:0015108 UMLS:C4751233 Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive Childhood Infancy Worldwide AND has_annual_incidence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101685 Rare non-syndromic intellectual disability ORPHA:101685 ICD-10:F70 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F71 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F72 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:F73 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015108 E (Exact mapping: the two concepts are equivalent) UMLS:C4751233 E (Exact mapping: the two concepts are equivalent) Xq22.3 microdeletion syndrome A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y MONDO:0010641 OMIM:150700 OMIM:308940 UMLS:C4511693 X-linked dominant Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1018 X-linked Alport syndrome-diffuse leiomyomatosis Clinical subtype ORPHA:1018 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010641 E (Exact mapping: the two concepts are equivalent) OMIM:150700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:308940 E (Exact mapping: the two concepts are equivalent) UMLS:C4511693 E (Exact mapping: the two concepts are equivalent) Alport syndrome with macrothrombocytopenia This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease UMLS:C0398641 Epstein syndrome ORPHA:1019 UMLS:C0398641 E (Exact mapping: the two concepts are equivalent) A group of rare congenital mitral malformations characterized by anomalies of the chordae tendineae and papillary muscles. This comprises anomalous mitral arcade or hammock valve (due to thickened and extremely short chordae tendineae), straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired left ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association. Orphanet ICD-10:Q23.8 ICD-11:LA87.13 MONDO:0015109 UMLS:C3164517 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101932 Anomaly of the mitral subvalvular apparatus ORPHA:101932 MONDO:0015109 E (Exact mapping: the two concepts are equivalent) UMLS:C3164517 E (Exact mapping: the two concepts are equivalent) ICD-10:Q23.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA87.13 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681782 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101934 Genetic cardiac rhythm disease Category ORPHA:101934 UMLS:C5681782 E (Exact mapping: the two concepts are equivalent) UMLS:C5681788 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101936 Rare gastroesophageal disease Category ORPHA:101936 UMLS:C5681788 E (Exact mapping: the two concepts are equivalent) UMLS:C5681789 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101937 Rare pancreatic disease Category ORPHA:101937 UMLS:C5681789 E (Exact mapping: the two concepts are equivalent) UMLS:C5681786 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101938 Rare vascular liver disease Category ORPHA:101938 UMLS:C5681786 E (Exact mapping: the two concepts are equivalent) UMLS:C5681787 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101939 Rare parenchymal liver disease Category ORPHA:101939 UMLS:C5681787 E (Exact mapping: the two concepts are equivalent) MedDRA:10019689 UMLS:C5681784 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101940 Rare metabolic liver disease Category ORPHA:101940 MedDRA:10019689 E (Exact mapping: the two concepts are equivalent) UMLS:C5681784 E (Exact mapping: the two concepts are equivalent) UMLS:C5681785 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101941 Rare biliary tract disease Category ORPHA:101941 UMLS:C5681785 E (Exact mapping: the two concepts are equivalent) UMLS:C5681783 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101943 Rare hepatic and biliary tract tumor Category ORPHA:101943 UMLS:C5681783 E (Exact mapping: the two concepts are equivalent) UMLS:C5681796 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101944 Rare pulmonary disease Category ORPHA:101944 UMLS:C5681796 E (Exact mapping: the two concepts are equivalent) UMLS:C5925054 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101945 Rare bronchopulmonary and pleural cavity tumors Category ORPHA:101945 UMLS:C5925054 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Rare ophthalmic disorder OBSOLETE: Rare acquired eye disease ORPHA:101949 UMLS:C5681794 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101950 Rare eye tumor Category ORPHA:101950 UMLS:C5681794 E (Exact mapping: the two concepts are equivalent) UMLS:C5681799 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101952 Rare diabetes mellitus Category ORPHA:101952 UMLS:C5681799 E (Exact mapping: the two concepts are equivalent) UMLS:C5681798 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101953 Rare dyslipidemia Category ORPHA:101953 UMLS:C5681798 E (Exact mapping: the two concepts are equivalent) UMLS:C5681801 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101954 Rare adrenal disease Category ORPHA:101954 UMLS:C5681801 E (Exact mapping: the two concepts are equivalent) UMLS:C5681800 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101955 Rare thyroid disease Category ORPHA:101955 UMLS:C5681800 E (Exact mapping: the two concepts are equivalent) MONDO:0015126 UMLS:C5681797 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101956 Polyendocrinopathy Category ORPHA:101956 MONDO:0015126 E (Exact mapping: the two concepts are equivalent) UMLS:C5681797 E (Exact mapping: the two concepts are equivalent) ICD-10:E23.0 ICD-11:5A61.0 MONDO:0015127 UMLS:C0020635 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101957 Pituitary deficiency Category ORPHA:101957 ICD-10:E23.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:5A61.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015127 E (Exact mapping: the two concepts are equivalent) UMLS:C0020635 E (Exact mapping: the two concepts are equivalent) MONDO:0015128 MedDRA:10052381 UMLS:C3887896 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101958 Primary adrenal insufficiency Category ORPHA:101958 MONDO:0015128 E (Exact mapping: the two concepts are equivalent) MedDRA:10052381 E (Exact mapping: the two concepts are equivalent) UMLS:C3887896 E (Exact mapping: the two concepts are equivalent) CPAI Chronic adrenocorticoid insufficiency Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones. Orphanet MONDO:0015129 UMLS:C5848257 Multigenic/multifactorial All ages Europe AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 14.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101959 Chronic primary adrenal insufficiency Category ORPHA:101959 MONDO:0015129 E (Exact mapping: the two concepts are equivalent) UMLS:C5848257 E (Exact mapping: the two concepts are equivalent) UMLS:C5681791 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101960 Genetic chronic primary adrenal insufficiency Category ORPHA:101960 UMLS:C5681791 E (Exact mapping: the two concepts are equivalent) UMLS:C5681792 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101963 Acquired chronic primary adrenal insufficiency Category ORPHA:101963 UMLS:C5681792 E (Exact mapping: the two concepts are equivalent) ICD-10:D81 ICD-11:4A01.1 UMLS:C5681793 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101972 Combined T and B cell immunodeficiency Clinical group ORPHA:101972 ICD-10:D81 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A01.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681793 E (Exact mapping: the two concepts are equivalent) ICD-11:4A01.0 UMLS:C5681776 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101977 Immunodeficiency predominantly affecting antibody production Category ORPHA:101977 ICD-11:4A01.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681776 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Immunodeficiency predominantly affecting antibody production OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells ORPHA:101978 This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells ORPHA:101980 This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells ORPHA:101982 UMLS:C5681777 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101985 Quantitative and/or qualitative congenital phagocyte defect Category ORPHA:101985 UMLS:C5681777 E (Exact mapping: the two concepts are equivalent) Constitutional neutropenia ICD-10:D70 ICD-11:4B00.00 MONDO:0015134 UMLS:C3805116 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101987 Congenital neutropenia Category ORPHA:101987 ICD-10:D70 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4B00.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015134 E (Exact mapping: the two concepts are equivalent) UMLS:C3805116 E (Exact mapping: the two concepts are equivalent) ICD-11:4A00 UMLS:C5681778 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101988 Primary immunodeficiency due to a defect in innate immunity Category ORPHA:101988 ICD-11:4A00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681778 E (Exact mapping: the two concepts are equivalent) ICD-10:D84.1 ICD-11:4A00.1 UMLS:C5681769 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101992 Immunodeficiency due to a complement cascade protein anomaly Category ORPHA:101992 ICD-10:D84.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A00.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681769 E (Exact mapping: the two concepts are equivalent) MONDO:0015137 MedDRA:10034533 UMLS:C3889979 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101995 Periodic fever syndrome Category ORPHA:101995 MONDO:0015137 E (Exact mapping: the two concepts are equivalent) MedDRA:10034533 E (Exact mapping: the two concepts are equivalent) UMLS:C3889979 E (Exact mapping: the two concepts are equivalent) MeSH:D000081207 MedDRA:10064859 UMLS:C0398686 Australia AND has_point_prevalence_average_value : 5.6 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 11.0 AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_point_prevalence_average_value : 1.38 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 1.79 AND has_point_prevalence_range : 1-9 / 100 000 Korea, Republic of AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000 New Zealand AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 6.8 AND has_point_prevalence_range : 1-9 / 100 000 Oman AND has_point_prevalence_average_value : 4.5 AND has_point_prevalence_range : 1-9 / 100 000 Poland AND has_point_prevalence_average_value : 1.33 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 3.6 AND has_point_prevalence_range : 1-9 / 100 000 Turkey AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 1.84 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101997 Primary immunodeficiency Category ORPHA:101997 MeSH:D000081207 E (Exact mapping: the two concepts are equivalent) MedDRA:10064859 E (Exact mapping: the two concepts are equivalent) UMLS:C0398686 E (Exact mapping: the two concepts are equivalent) UMLS:C5681770 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=101998 Rare epilepsy Category ORPHA:101998 UMLS:C5681770 E (Exact mapping: the two concepts are equivalent) MSA Multisystem atrophy Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years. Orphanet ICD-10:G23.2 ICD-10:G23.3 ICD-11:8D87.0 MONDO:0007803 MeSH:D019578 MedDRA:10064060 OMIM:146500 UMLS:C0393571 Multigenic/multifactorial Not applicable Adult Europe AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000 Faroe Islands AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 1.9 AND has_point_prevalence_range : 1-9 / 100 000 Iceland AND has_annual_incidence_average_value : 0.7 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_point_prevalence_average_value : 3.4 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 4.9 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 10.3 AND has_point_prevalence_range : 1-5 / 10 000 Russian Federation AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.6 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 1.8 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102 Multiple system atrophy ORPHA:102 ICD-10:G23.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:G23.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8D87.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0007803 E (Exact mapping: the two concepts are equivalent) MeSH:D019578 E (Exact mapping: the two concepts are equivalent) MedDRA:10064060 E (Exact mapping: the two concepts are equivalent) OMIM:146500 E (Exact mapping: the two concepts are equivalent) UMLS:C0393571 E (Exact mapping: the two concepts are equivalent) EOFAD Early-onset familial autosomal dominant Alzheimer disease Familial Alzheimer disease Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. Orphanet ICD-10:G30.0 ICD-11:6D80.0 MONDO:0015140 OMIM:104300 OMIM:104310 OMIM:602096 OMIM:604154 OMIM:605055 OMIM:605526 OMIM:606187 OMIM:606889 OMIM:607116 OMIM:607822 OMIM:609636 OMIM:609790 OMIM:611073 OMIM:611152 OMIM:611154 UMLS:C0276496 Autosomal dominant Adult Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1020 Early-onset autosomal dominant Alzheimer disease ORPHA:1020 ICD-10:G30.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:6D80.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015140 E (Exact mapping: the two concepts are equivalent) OMIM:104300 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:104310 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602096 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604154 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605055 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605526 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606187 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606889 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607116 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607822 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609636 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609790 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611073 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611152 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611154 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0276496 E (Exact mapping: the two concepts are equivalent) UMLS:C5681773 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102000 Medullar disease Category ORPHA:102000 UMLS:C5681773 E (Exact mapping: the two concepts are equivalent) UMLS:C5681771 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102002 Rare ataxia Category ORPHA:102002 UMLS:C5681771 E (Exact mapping: the two concepts are equivalent) UMLS:C5681772 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102003 Rare movement disorder Category ORPHA:102003 UMLS:C5681772 E (Exact mapping: the two concepts are equivalent) UMLS:C5681775 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102005 Brain inflammatory disease Category ORPHA:102005 UMLS:C5681775 E (Exact mapping: the two concepts are equivalent) UMLS:C5681774 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102006 Neurovascular malformation Category ORPHA:102006 UMLS:C5681774 E (Exact mapping: the two concepts are equivalent) Lissencephaly type 1 ICD-11:LD20.1 MONDO:0015146 UMLS:C0431375 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102009 Classic lissencephaly Clinical group ORPHA:102009 ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015146 E (Exact mapping: the two concepts are equivalent) UMLS:C0431375 E (Exact mapping: the two concepts are equivalent) ICD-11:LD20.1 UMLS:C5681781 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102010 Other syndrome with lissencephaly as a major feature Category ORPHA:102010 ICD-11:LD20.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681781 E (Exact mapping: the two concepts are equivalent) ICD-11:LD20.1 MONDO:0015148 MeSH:C566908 UMLS:C1969029 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102011 Lissencephaly type 3 Clinical group ORPHA:102011 ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015148 E (Exact mapping: the two concepts are equivalent) MeSH:C566908 E (Exact mapping: the two concepts are equivalent) UMLS:C1969029 E (Exact mapping: the two concepts are equivalent) Pure HSP Pure SPG Pure familial spastic paraplegia Uncomplicated HSP Uncomplicated SPG Uncomplicated familial spastic paraplegia Uncomplicated hereditary spastic paraplegia MONDO:0015149 UMLS:C0393555 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102012 Pure hereditary spastic paraplegia Clinical group ORPHA:102012 MONDO:0015149 E (Exact mapping: the two concepts are equivalent) UMLS:C0393555 E (Exact mapping: the two concepts are equivalent) Complex HSP Complex SPG Complex familial spastic paraplegia Complicated HSP Complicated SPG Complicated familial spastic paraplegia Complicated hereditary spastic paraplegia MONDO:0015150 UMLS:C0393556 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102013 Complex hereditary spastic paraplegia Clinical group ORPHA:102013 MONDO:0015150 E (Exact mapping: the two concepts are equivalent) UMLS:C0393556 E (Exact mapping: the two concepts are equivalent) ICD-11:8C70.40 MONDO:0015151 UMLS:C5675009 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102014 Autosomal dominant limb-girdle muscular dystrophy Category ORPHA:102014 ICD-11:8C70.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015151 E (Exact mapping: the two concepts are equivalent) UMLS:C5675009 E (Exact mapping: the two concepts are equivalent) ICD-11:8C70.41 MONDO:0015152 MeSH:C538640 UMLS:C2931907 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102015 Autosomal recessive limb-girdle muscular dystrophy Category ORPHA:102015 ICD-11:8C70.41 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015152 E (Exact mapping: the two concepts are equivalent) MeSH:C538640 E (Exact mapping: the two concepts are equivalent) UMLS:C2931907 E (Exact mapping: the two concepts are equivalent) Autosomal deletion ICD-11:LD43 ICD-11:LD44 UMLS:C0026499 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102020 Autosomal monosomy syndrome Category ORPHA:102020 ICD-11:LD43 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD44 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0026499 E (Exact mapping: the two concepts are equivalent) Rickettsiae disease MONDO:0006956 MeSH:D012282 UMLS:C0035585 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102021 Rickettsial disease Category ORPHA:102021 MONDO:0006956 E (Exact mapping: the two concepts are equivalent) MeSH:D012282 E (Exact mapping: the two concepts are equivalent) UMLS:C0035585 E (Exact mapping: the two concepts are equivalent) Spotted fever rickettsiae disease ICD-11:1C31 UMLS:C5680374 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102022 Spotted fever rickettsiosis Category ORPHA:102022 ICD-11:1C31 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5680374 E (Exact mapping: the two concepts are equivalent) Typhus-group rickettsiae disease ICD-11:1C30 UMLS:C0343758 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102023 Typhus-group rickettsiosis Category ORPHA:102023 ICD-11:1C30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0343758 E (Exact mapping: the two concepts are equivalent) HHV-8-related disorder MONDO:0015157 UMLS:C5680371 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102024 Human herpesvirus 8-related disorder Category ORPHA:102024 MONDO:0015157 E (Exact mapping: the two concepts are equivalent) UMLS:C5680371 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Nuclear cell envelopathy ORPHA:102025 OBSOLETE: Cholestatic hepatic amyloidosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Primary localized amyloidosis OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis ORPHA:102069 A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989. Orphanet ICD-10:H35.5 ICD-11:9B70 MONDO:0008766 MeSH:C536604 OMIM:204110 UMLS:C4303739 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1021 Historical entity Amaurosis-hypertrichosis syndrome ORPHA:1021 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008766 E (Exact mapping: the two concepts are equivalent) MeSH:C536604 E (Exact mapping: the two concepts are equivalent) OMIM:204110 E (Exact mapping: the two concepts are equivalent) UMLS:C4303739 E (Exact mapping: the two concepts are equivalent) MONDO:0015158 UMLS:C5681779 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102237 Unexplained periodic fever syndrome Category ORPHA:102237 MONDO:0015158 E (Exact mapping: the two concepts are equivalent) UMLS:C5681779 E (Exact mapping: the two concepts are equivalent) MCA/MR Multiple congenital anomalies-intellectual disability with or without dysmorphism MONDO:0015159 UMLS:C5680372 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability Category ORPHA:102283 MONDO:0015159 E (Exact mapping: the two concepts are equivalent) UMLS:C5680372 E (Exact mapping: the two concepts are equivalent) OBSOLETE: MCA/variable MR OBSOLETE: Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome ORPHA:102284 MCA without intellectual disability Multiple congenital anomalies without intellectual disability with or without dysmorphism MONDO:0015161 UMLS:C5680373 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102285 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability Category ORPHA:102285 MONDO:0015161 E (Exact mapping: the two concepts are equivalent) UMLS:C5680373 E (Exact mapping: the two concepts are equivalent) Ambras syndrome Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth. Orphanet ICD-10:Q84.2 ICD-11:LD27.0Y MONDO:0007787 MeSH:C536605 OMIM:145701 UMLS:C1840362 Unknown Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1023 Congenital generalized hypertrichosis, Ambras type Clinical subtype ORPHA:1023 ICD-10:Q84.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007787 E (Exact mapping: the two concepts are equivalent) MeSH:C536605 E (Exact mapping: the two concepts are equivalent) OMIM:145701 E (Exact mapping: the two concepts are equivalent) UMLS:C1840362 E (Exact mapping: the two concepts are equivalent) UMLS:C5681780 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102369 Rare syndromic intellectual disability Category ORPHA:102369 UMLS:C5681780 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Glomerular disease OBSOLETE: Primary glomerular disease ORPHA:102373 AML and myelodysplastic syndromes related to alkylating agent A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). Orphanet ICD-10:C92.8 ICD-11:2A60.20 MONDO:0015164 UMLS:C1332234 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent ORPHA:102379 ICD-10:C92.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015164 E (Exact mapping: the two concepts are equivalent) UMLS:C1332234 E (Exact mapping: the two concepts are equivalent) AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. Orphanet ICD-10:C92.0 ICD-11:2A60.20 MONDO:0015165 UMLS:C4707659 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor ORPHA:102381 ICD-10:C92.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2A60.20 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015165 E (Exact mapping: the two concepts are equivalent) UMLS:C4707659 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Tetraamelia-multiple malformations syndrome MONDO:0011054 MeSH:C563338 OMIM:601360 UMLS:C1832432 Autosomal recessive amelia ORPHA:1027 MONDO:0011054 E (Exact mapping: the two concepts are equivalent) MeSH:C563338 E (Exact mapping: the two concepts are equivalent) OMIM:601360 E (Exact mapping: the two concepts are equivalent) UMLS:C1832432 E (Exact mapping: the two concepts are equivalent) AML with t(8;21)(q22;q22) translocation A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, forming a RUNX1-RUNX1T1 fusion gene, presenting with morphological characteristics which include myeloblasts with indented nuclei, basophilic cytoplasm with a prominent paranuclear hof that may contain a few azurophilic granules, prominent and possibly large promyelocytes, myelocytes and metamyelocytes, easily identifiable Auer rods and, more variably, bone marrow eosinophilia. Myeloid sarcoma is frequently present at diagnosis. Detection of the t(8;21)(q22;22) translocation is sufficient for diagnosis irrespective of blast count. Orphanet ICD-10:C92.0 ICD-11:2A60.0 MONDO:0015166 UMLS:C1292774 Adolescent Adult Childhood Europe AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation ORPHA:102724 ICD-10:C92.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2A60.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015166 E (Exact mapping: the two concepts are equivalent) UMLS:C1292774 E (Exact mapping: the two concepts are equivalent) Ameloonychohypohidrotic ectodermal dysplasia Ameloonychohypohidrotic syndrome A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal puncta may be occasionally absent. There have been no further descriptions in the literature since 1975. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MONDO:0007095 MeSH:C538245 OMIM:104570 UMLS:C1863006 No data available Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1028 Historical entity Amelo-onycho-hypohidrotic syndrome ORPHA:1028 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007095 E (Exact mapping: the two concepts are equivalent) MeSH:C538245 E (Exact mapping: the two concepts are equivalent) OMIM:104570 E (Exact mapping: the two concepts are equivalent) UMLS:C1863006 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Hereditary optic neuropathy OBSOLETE: Genetic optic atrophy ORPHA:103 Amelogenesis imperfecta-nephrocalcinosis syndrome A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure. Orphanet ICD-10:K00.5 ICD-11:LA30.6 MONDO:0008771 MeSH:C538241 OMIM:204690 UMLS:C2931783 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 11.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1031 Enamel-renal syndrome ORPHA:1031 ICD-10:K00.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA30.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008771 E (Exact mapping: the two concepts are equivalent) MeSH:C538241 E (Exact mapping: the two concepts are equivalent) OMIM:204690 E (Exact mapping: the two concepts are equivalent) UMLS:C2931783 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Lysinuric protein intolerance OBSOLETE: Hyperdibasic aminoaciduria type 1 ORPHA:1032 OBSOLETE: ADAM syndrome OBSOLETE: Amniotic deformity-adhesion-mutilation syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Non-syndromic terminal transverse limb defect OBSOLETE: Amniotic bands ORPHA:1034 3-mercaptopyruvate sulfurtransferase deficiency Ampola syndrome MCDU An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981. Orphanet ICD-10:E72.1 MONDO:0009585 OMIM:249650 UMLS:C0796055 No data available Worldwide AND has_cases/families_value : 1.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1035 Historical entity Beta-mercaptolactate cysteine disulfiduria ORPHA:1035 ICD-10:E72.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0009585 E (Exact mapping: the two concepts are equivalent) OMIM:249650 E (Exact mapping: the two concepts are equivalent) UMLS:C0796055 E (Exact mapping: the two concepts are equivalent) AMC Multiple congenital arthrogryposis A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures. Orphanet ICD-10:Q74.3 MONDO:0015168 MedDRA:10051643 UMLS:C5779613 Autosomal dominant Autosomal recessive Not applicable X-linked recessive Neonatal Australia AND has_birth_prevalence_average_value : 8.3 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 5.7 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1037 Arthrogryposis multiplex congenita Clinical group ORPHA:1037 ICD-10:Q74.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015168 E (Exact mapping: the two concepts are equivalent) MedDRA:10051643 E (Exact mapping: the two concepts are equivalent) UMLS:C5779613 E (Exact mapping: the two concepts are equivalent) Maltase-glucoamylase deficiency A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa. Orphanet ICD-10:E74.3 ICD-11:5C61.1 MONDO:0015169 UMLS:C4275068 Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=103907 Chronic diarrhea due to glucoamylase deficiency ORPHA:103907 ICD-10:E74.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C61.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015169 E (Exact mapping: the two concepts are equivalent) UMLS:C4275068 E (Exact mapping: the two concepts are equivalent) CSD NHE3 deficiency Na-H exchanger 3 deficiency Non-syndromic congenital sodium diarrhea Sodium/proton exchanger-3 deficiency A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis. Orphanet ICD-10:K90.8 ICD-11:DA90.1 MONDO:0015170 OMIM:270420 OMIM:616868 UMLS:C0267663 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=103908 Congenital sodium diarrhea ORPHA:103908 ICD-10:K90.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015170 E (Exact mapping: the two concepts are equivalent) OMIM:270420 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616868 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0267663 E (Exact mapping: the two concepts are equivalent) Isolated trehalose intolerance A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere. Orphanet ICD-10:E74.3 ICD-11:5C61.3 MONDO:0012803 MeSH:C562603 OMIM:612119 UMLS:C0268187 Autosomal dominant Adolescent Adult Greenland AND has_annual_incidence_average_value : 7700.0 AND has_annual_incidence_range : >1 / 1000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=103909 Trehalase deficiency ORPHA:103909 ICD-10:E74.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C61.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0012803 E (Exact mapping: the two concepts are equivalent) MeSH:C562603 E (Exact mapping: the two concepts are equivalent) OMIM:612119 E (Exact mapping: the two concepts are equivalent) UMLS:C0268187 E (Exact mapping: the two concepts are equivalent) A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal. Orphanet ICD-10:P78.3 ICD-11:DA90.Y MONDO:0015171 UMLS:C4511238 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=103910 Congenital enterocyte heparan sulfate deficiency ORPHA:103910 ICD-10:P78.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015171 E (Exact mapping: the two concepts are equivalent) UMLS:C4511238 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare inflammatory bowel disease OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome ORPHA:103912 OBSOLETE: IPSID OBSOLETE: Mediterranean lymphoma This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Alpha-heavy chain disease OBSOLETE: Immunoproliferative small intestinal disease ORPHA:103915 This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Syndromic autoimmune enteropathy OBSOLETE: Autoimmune enteropathy type 2 ORPHA:103916 This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Syndromic autoimmune enteropathy OBSOLETE: Autoimmune enteropathy type 3 ORPHA:103917 TCP Tropical calcific chronic pancreatitis A rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis. Orphanet ICD-10:K86.1 ICD-11:DC32.5 MONDO:0011986 MeSH:C564276 OMIM:608189 UMLS:C1842402 Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=103918 Tropical pancreatitis ORPHA:103918 ICD-10:K86.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DC32.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0011986 E (Exact mapping: the two concepts are equivalent) MeSH:C564276 E (Exact mapping: the two concepts are equivalent) OMIM:608189 E (Exact mapping: the two concepts are equivalent) UMLS:C1842402 E (Exact mapping: the two concepts are equivalent) AIP A rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1, which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2, which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels. Orphanet ICD-11:DC33 MONDO:0015175 MeSH:D000081012 MedDRA:10069002 UMLS:C2609129 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=103919 Autoimmune pancreatitis Clinical group ORPHA:103919 ICD-11:DC33 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015175 E (Exact mapping: the two concepts are equivalent) MeSH:D000081012 E (Exact mapping: the two concepts are equivalent) MedDRA:10069002 E (Exact mapping: the two concepts are equivalent) UMLS:C2609129 E (Exact mapping: the two concepts are equivalent) Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles Crohn’s disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen. Orphanet ICD-10:K52.3 ICD-11:DD72 MONDO:0015176 UMLS:C5681748 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=103920 Undetermined colitis ORPHA:103920 ICD-10:K52.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DD72 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015176 E (Exact mapping: the two concepts are equivalent) UMLS:C5681748 E (Exact mapping: the two concepts are equivalent) LHON Leber optic atrophy A rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy. Orphanet ICD-10:H47.2 ICD-11:8C73.Y MONDO:0010788 MeSH:D029242 OMIM:308905 OMIM:535000 OMIM:619382 UMLS:C0917796 Mitochondrial inheritance Adolescent Adult Denmark AND has_point_prevalence_average_value : 1.85 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 1.9743 AND has_point_prevalence_range : 1-9 / 100 000 Netherlands AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 3.22 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 4.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104 Leber hereditary optic neuropathy ORPHA:104 ICD-10:H47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C73.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010788 E (Exact mapping: the two concepts are equivalent) MeSH:D029242 E (Exact mapping: the two concepts are equivalent) OMIM:308905 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:535000 E (Exact mapping: the two concepts are equivalent) OMIM:619382 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0917796 E (Exact mapping: the two concepts are equivalent) Maroteaux-Verloes-Stanescu syndrome Regressive metaphyseal dysplasia A rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed. Orphanet ICD-10:Q78.5 ICD-11:LD24.7 MONDO:0015177 MeSH:C537351 OMIM:602111 OMIM:613073 UMLS:C0432226 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 27.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1040 Metaphyseal anadysplasia ORPHA:1040 ICD-10:Q78.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015177 E (Exact mapping: the two concepts are equivalent) MeSH:C537351 E (Exact mapping: the two concepts are equivalent) OMIM:602111 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:613073 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0432226 E (Exact mapping: the two concepts are equivalent) ICD-11:DA90.1 UMLS:C5681747 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104003 Congenital intestinal transport defect Category ORPHA:104003 ICD-11:DA90.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681747 E (Exact mapping: the two concepts are equivalent) UMLS:C5681746 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104004 Intestinal disease due to vitamin absorption anomaly Category ORPHA:104004 UMLS:C5681746 E (Exact mapping: the two concepts are equivalent) UMLS:C5681745 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104005 Intestinal disease due to fat malabsorption Category ORPHA:104005 UMLS:C5681745 E (Exact mapping: the two concepts are equivalent) UMLS:C5681744 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104006 Congenital intestinal disease due to an enzymatic defect Category ORPHA:104006 UMLS:C5681744 E (Exact mapping: the two concepts are equivalent) UMLS:C5681743 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104007 Congenital enteropathy involving intestinal mucosa development Category ORPHA:104007 UMLS:C5681743 E (Exact mapping: the two concepts are equivalent) Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility. Orphanet ICD-11:DA96.04 MONDO:0015183 MeSH:D012778 MedDRA:10049416 UMLS:C0036992 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104008 Short bowel syndrome Clinical group ORPHA:104008 ICD-11:DA96.04 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015183 E (Exact mapping: the two concepts are equivalent) MeSH:D012778 E (Exact mapping: the two concepts are equivalent) MedDRA:10049416 E (Exact mapping: the two concepts are equivalent) UMLS:C0036992 E (Exact mapping: the two concepts are equivalent) UMLS:C5681742 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104009 Rare disease involving intestinal motility Category ORPHA:104009 UMLS:C5681742 E (Exact mapping: the two concepts are equivalent) MONDO:0015185 MeSH:D044483 MedDRA:10057018 UMLS:C0345891 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104010 Intestinal polyposis syndrome Clinical group ORPHA:104010 MONDO:0015185 E (Exact mapping: the two concepts are equivalent) MeSH:D044483 E (Exact mapping: the two concepts are equivalent) MedDRA:10057018 E (Exact mapping: the two concepts are equivalent) UMLS:C0345891 E (Exact mapping: the two concepts are equivalent) Rare intestinal tumor Rare tumor of bowel UMLS:C5680369 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104011 Rare tumor of intestine Category ORPHA:104011 UMLS:C5680369 E (Exact mapping: the two concepts are equivalent) UMLS:C5681741 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104012 Rare inflammatory bowel disease Category ORPHA:104012 UMLS:C5681741 E (Exact mapping: the two concepts are equivalent) UMLS:C5681740 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104013 Metabolic disease with intestinal involvement Category ORPHA:104013 UMLS:C5681740 E (Exact mapping: the two concepts are equivalent) Adenocarcinoma of the small bowel Small bowel adenocarcinoma (SBA) is a rare small intestinal malignancy, most commonly located in the duodenum (55% of cases) but also rarely in the jejunum and ileum, which is usually discovered at an advanced stage in the 6th to 7th decade of life due to non-specific symptoms at presentation such as nausea, abdominal pain and weight loss. In some cases it is asymptomatic, and therefore usually has a poor prognosis. Orphanet ICD-10:C17.9 ICD-11:2B80.20 MONDO:0003198 MedDRA:10073373 UMLS:C0278803 Not applicable Adult Austria AND has_annual_incidence_average_value : 0.517 AND has_annual_incidence_range : 1-9 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.734 AND has_annual_incidence_range : 1-9 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.174 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.308 AND has_annual_incidence_range : 1-9 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.464 AND has_annual_incidence_range : 1-9 / 1 000 000 Estonia AND has_annual_incidence_average_value : 0.36 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.588 AND has_annual_incidence_range : 1-9 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.574 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_annual_incidence_average_value : 0.657 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.551 AND has_annual_incidence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 0.724 AND has_annual_incidence_range : 1-9 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.564 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.79 AND has_annual_incidence_range : 1-9 / 1 000 000 Latvia AND has_annual_incidence_average_value : 0.265 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.277 AND has_annual_incidence_range : 1-9 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.377 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.626 AND has_annual_incidence_range : 1-9 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.788 AND has_annual_incidence_range : 1-9 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.219 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.743 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.462 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.4 AND has_annual_incidence_range : 1-9 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.477 AND has_annual_incidence_range : 1-9 / 1 000 000 Switzerland AND has_annual_incidence_average_value : 0.76 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.679 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104075 Adenocarcinoma of the small intestine ORPHA:104075 ICD-10:C17.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B80.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0003198 E (Exact mapping: the two concepts are equivalent) MedDRA:10073373 E (Exact mapping: the two concepts are equivalent) UMLS:C0278803 E (Exact mapping: the two concepts are equivalent) Small bowel leiomyosarcoma is a rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases. Orphanet ICD-10:C17.0 ICD-10:C17.1 ICD-10:C17.2 ICD-10:C17.3 ICD-10:C17.8 ICD-11:2B58.Y MONDO:0003360 MedDRA:10041127 UMLS:C0920305 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104076 Leiomyosarcoma of small intestine ORPHA:104076 ICD-10:C17.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C17.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C17.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C17.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:C17.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2B58.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0003360 E (Exact mapping: the two concepts are equivalent) MedDRA:10041127 E (Exact mapping: the two concepts are equivalent) UMLS:C0920305 E (Exact mapping: the two concepts are equivalent) ICD-10:K59.8 ICD-11:DA90.2 MONDO:0015191 UMLS:C5681739 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104077 Myopathic intestinal pseudoobstruction Etiological subtype ORPHA:104077 ICD-10:K59.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015191 E (Exact mapping: the two concepts are equivalent) UMLS:C5681739 E (Exact mapping: the two concepts are equivalent) ICD-10:K59.8 ICD-11:DA90.2 UMLS:C5681767 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=104078 Unclassified intestinal pseudoobstruction Etiological subtype ORPHA:104078 ICD-10:K59.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). UMLS:C5681767 E (Exact mapping: the two concepts are equivalent) Fetal anasarca Fetal hydrops Generalized fetal edema HF Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility). Orphanet ICD-10:P56.0 ICD-10:P56.9 ICD-10:P83.2 ICD-11:KA85 ICD-11:KA85.0 ICD-11:KA85.Y ICD-11:KC41.1 MONDO:0015193 MeSH:D015160 MedDRA:10020529 OMIM:236750 UMLS:C0020305 Not applicable Antenatal Ireland AND has_birth_prevalence_average_value : 134.0 AND has_birth_prevalence_range : >1 / 1000 Thailand AND has_birth_prevalence_average_value : 180.0 AND has_birth_prevalence_range : >1 / 1000 Turkey AND has_birth_prevalence_average_value : 380.0 AND has_birth_prevalence_range : >1 / 1000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1041 Hydrops fetalis ORPHA:1041 ICD-10:P56.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:P56.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:P83.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KA85 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KA85.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KA85.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KC41.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015193 E (Exact mapping: the two concepts are equivalent) MeSH:D015160 E (Exact mapping: the two concepts are equivalent) MedDRA:10020529 E (Exact mapping: the two concepts are equivalent) OMIM:236750 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0020305 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare constitutional hemolytic anemia due to an enzyme disorder OBSOLETE: Anemia due to adenosine triphosphatase deficiency ORPHA:1044 Water-West syndrome A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995. Orphanet ICD-10:D58.8 ICD-11:3A10.Y MONDO:0010891 OMIM:600461 UMLS:C4304746 Unknown Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1046 Historical entity Lethal hemolytic anemia-genital anomalies syndrome ORPHA:1046 ICD-10:D58.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:3A10.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0010891 E (Exact mapping: the two concepts are equivalent) OMIM:600461 E (Exact mapping: the two concepts are equivalent) UMLS:C4304746 E (Exact mapping: the two concepts are equivalent) Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias. Orphanet MONDO:0015194 MeSH:D000756 MedDRA:10040661 OMIM:182170 OMIM:205950 OMIM:300751 OMIM:619523 UMLS:C0002896 Autosomal dominant Autosomal recessive Mitochondrial inheritance Not applicable X-linked dominant X-linked recessive All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1047 Sideroblastic anemia Category ORPHA:1047 MONDO:0015194 E (Exact mapping: the two concepts are equivalent) MeSH:D000756 E (Exact mapping: the two concepts are equivalent) MedDRA:10040661 E (Exact mapping: the two concepts are equivalent) OMIM:182170 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:205950 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300751 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619523 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0002896 E (Exact mapping: the two concepts are equivalent) A rare neural tube defect characterized by the absence of cranial vault and brain structures. This lethal malformation is secondary to a failure to close the anterior neuropore during early embryonic development, leading to exencephaly (''open'' brain). The degeneration of the cerebral tissue is due to their exposure to the amniotic fluid and converts the exencephaly into anencephaly (absence of the brain). Orphanet ICD-10:Q04.8 ICD-11:LA00.0 ICD-11:LA00.Y OMIM:206500 OMIM:619452 UMLS:C5680972 Multigenic/multifactorial Not applicable Infancy Neonatal Africa AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : >1 / 1000 Australia AND has_birth_prevalence_average_value : 8.6 AND has_birth_prevalence_range : 6-9 / 10 000 Europe AND has_birth_prevalence_average_value : 4.22 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 India AND has_birth_prevalence_average_value : 210.0 AND has_birth_prevalence_range : >1 / 1000 Iran, Islamic Republic of AND has_birth_prevalence_average_value : 120.0 AND has_birth_prevalence_range : >1 / 1000 Singapore AND has_birth_prevalence_average_value : 58.0 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 20.6 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 5.1 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1048 Isolated anencephaly/exencephaly ORPHA:1048 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA00.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA00.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). OMIM:206500 E (Exact mapping: the two concepts are equivalent) OMIM:619452 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C5680972 E (Exact mapping: the two concepts are equivalent) Urethral atresia A rare fetal lower urinary tract obstruction (LUTO) characterized by closure or failure to develop an opening in the urethra and resulting in obstructive uropathy presenting <i>in utero</i> as megacystis, oligohydramnios or anhydramnios, and potter sequence. Orphanet ICD-10:Q64.3 ICD-11:LB31.2 MONDO:0015195 MedDRA:10064895 UMLS:C0345345 Not applicable Antenatal Neonatal Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=105 Atresia of urethra ORPHA:105 ICD-10:Q64.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB31.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015195 E (Exact mapping: the two concepts are equivalent) MedDRA:10064895 E (Exact mapping: the two concepts are equivalent) UMLS:C0345345 E (Exact mapping: the two concepts are equivalent) Corneal anesthesia-deafness-intellectual disability syndrome Corneal anesthesia-hearing loss-intellectual disability syndrome Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y MONDO:0007382 MeSH:C535286 OMIM:122430 UMLS:C2930866 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1051 Ramos-Arroyo syndrome ORPHA:1051 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007382 E (Exact mapping: the two concepts are equivalent) MeSH:C535286 E (Exact mapping: the two concepts are equivalent) OMIM:122430 E (Exact mapping: the two concepts are equivalent) UMLS:C2930866 E (Exact mapping: the two concepts are equivalent) Warburton-Anyane-Yeboa syndrome Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. Orphanet ICD-10:Q99.8 ICD-11:LD7Y MONDO:0000141 MeSH:C536682 OMIM:257300 OMIM:614114 OMIM:617598 OMIM:620153 OMIM:620189 UMLS:C4551972 Autosomal dominant Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 41.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1052 Mosaic variegated aneuploidy syndrome ORPHA:1052 ICD-10:Q99.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD7Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0000141 E (Exact mapping: the two concepts are equivalent) MeSH:C536682 E (Exact mapping: the two concepts are equivalent) OMIM:257300 E (Exact mapping: the two concepts are equivalent) OMIM:614114 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617598 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620153 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620189 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C4551972 E (Exact mapping: the two concepts are equivalent) Vein of Galen arteriovenous malformations A rare intracranial congenital high-flow vascular malformation characterized by arteriovenous shunts draining into the median prosencephalic vein of Markowski, embryonic precursor of the vein of Galen, typically presenting in neonates or infants. Orphanet ICD-10:Q28.2 ICD-11:LA90.20 MONDO:0015196 MeSH:C536535 MedDRA:10077889 UMLS:C0431420 Not applicable Antenatal Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1053 Vein of Galen aneurysmal malformation ORPHA:1053 ICD-10:Q28.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA90.20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015196 E (Exact mapping: the two concepts are equivalent) MeSH:C536535 E (Exact mapping: the two concepts are equivalent) MedDRA:10077889 E (Exact mapping: the two concepts are equivalent) UMLS:C0431420 E (Exact mapping: the two concepts are equivalent) SOVA SVA Sinus of Valsalva aneurysm A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated. Orphanet ICD-10:Q25.4 ICD-11:LA8A.4 MONDO:0015197 UMLS:C2239253 Unknown Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1054 Aneurysm of sinus of Valsalva ORPHA:1054 ICD-10:Q25.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA8A.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015197 E (Exact mapping: the two concepts are equivalent) UMLS:C2239253 E (Exact mapping: the two concepts are equivalent) A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of aneurysms have been described as small as 0.5 cm in diameter and as big as 8x9 cm in size. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death. Orphanet ICD-10:Q24.8 ICD-11:LA88.Y MONDO:0021690 UMLS:C0344915 Antenatal Neonatal Worldwide AND has_cases/families_value : 809.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1055 Congenital left ventricular aneurysm ORPHA:1055 ICD-10:Q24.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA88.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0021690 E (Exact mapping: the two concepts are equivalent) UMLS:C0344915 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare disease with thoracic aortic aneurysm and aortic dissection OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome ORPHA:1057 BRBN Bean syndrome A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia. Orphanet ICD-10:Q27.8 ICD-11:LC51 MONDO:0007203 MeSH:C536240 OMIM:112200 UMLS:C0346072 Autosomal dominant Not applicable Childhood Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1059 Blue rubber bleb nevus ORPHA:1059 ICD-10:Q27.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC51 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007203 E (Exact mapping: the two concepts are equivalent) MeSH:C536240 E (Exact mapping: the two concepts are equivalent) OMIM:112200 E (Exact mapping: the two concepts are equivalent) UMLS:C0346072 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:F84.0 NON RARE IN EUROPE: Autism ORPHA:106 ICD-10:F84.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Brunzell syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Congenital generalized lipodystrophy Systemic cystic angiomatosis-Seip syndrome ORPHA:1060 A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988. Orphanet ICD-10:D18.0 ICD-11:LD2D.Y MONDO:0007116 MeSH:C536364 OMIM:106070 UMLS:C1275084 Autosomal dominant Childhood Infancy Worldwide AND has_cases/families_value : 9.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1062 Historical entity Hereditary neurocutaneous malformation ORPHA:1062 ICD-10:D18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007116 E (Exact mapping: the two concepts are equivalent) MeSH:C536364 E (Exact mapping: the two concepts are equivalent) OMIM:106070 E (Exact mapping: the two concepts are equivalent) UMLS:C1275084 E (Exact mapping: the two concepts are equivalent) Nakagawa angioblastoma A rare vascular tumor characterized by skin lesions with the appearance of poorly delineated red plaques or patches that may be either congenital or acquired (appearing usually in infants and early childhood) with slow angiomatous proliferation. Orphanet ICD-10:D18.0 ICD-11:2F2Y MONDO:0011927 MeSH:C536924 OMIM:607859 UMLS:C0346073 Multigenic/multifactorial Not applicable All ages Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1063 Tufted angioma ORPHA:1063 ICD-10:D18.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2F2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011927 E (Exact mapping: the two concepts are equivalent) MeSH:C536924 E (Exact mapping: the two concepts are equivalent) OMIM:607859 E (Exact mapping: the two concepts are equivalent) UMLS:C0346073 E (Exact mapping: the two concepts are equivalent) Sommer-Rathbun-Battles syndrome An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. Orphanet ICD-10:Q87.8 MONDO:0008796 MeSH:C536371 OMIM:206750 UMLS:C4518585 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1064 Historical entity Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0008796 E (Exact mapping: the two concepts are equivalent) MeSH:C536371 E (Exact mapping: the two concepts are equivalent) OMIM:206750 E (Exact mapping: the two concepts are equivalent) UMLS:C4518585 E (Exact mapping: the two concepts are equivalent) Gillespie syndrome A rare genetic developmental and neurological disorder characterized by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia. Orphanet ICD-10:G11.0 MONDO:0008795 MeSH:C536370 MedDRA:10083858 OMIM:206700 UMLS:C0431401 Autosomal dominant Autosomal recessive Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 22.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1065 Aniridia-cerebellar ataxia-intellectual disability syndrome ORPHA:1065 ICD-10:G11.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0008795 E (Exact mapping: the two concepts are equivalent) MeSH:C536370 E (Exact mapping: the two concepts are equivalent) MedDRA:10083858 E (Exact mapping: the two concepts are equivalent) OMIM:206700 E (Exact mapping: the two concepts are equivalent) UMLS:C0431401 E (Exact mapping: the two concepts are equivalent) An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. Orphanet ICD-10:Q13.1 MONDO:0015198 UMLS:C4303736 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1067 Historical entity Aniridia-ptosis-intellectual disability-familial obesity syndrome ORPHA:1067 ICD-10:Q13.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015198 E (Exact mapping: the two concepts are equivalent) UMLS:C4303736 E (Exact mapping: the two concepts are equivalent) Walker-Dyson syndrome An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. Orphanet ICD-10:Q13.1 MONDO:0015199 MeSH:C536568 UMLS:C2931243 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1068 Historical entity Aniridia-intellectual disability syndrome ORPHA:1068 ICD-10:Q13.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015199 E (Exact mapping: the two concepts are equivalent) MeSH:C536568 E (Exact mapping: the two concepts are equivalent) UMLS:C2931243 E (Exact mapping: the two concepts are equivalent) A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. Orphanet ICD-10:Q87.8 MONDO:0007120 MeSH:C566281 OMIM:106220 UMLS:C1862868 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1069 Aniridia-absent patella syndrome ORPHA:1069 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0007120 E (Exact mapping: the two concepts are equivalent) MeSH:C566281 E (Exact mapping: the two concepts are equivalent) OMIM:106220 E (Exact mapping: the two concepts are equivalent) UMLS:C1862868 E (Exact mapping: the two concepts are equivalent) Branchiootorenal spectrum disorder Branchiootorenal syndrome Melnick-Fraser syndrome A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MONDO:0007029 MeSH:D019280 MedDRA:10071135 OMIM:113650 OMIM:610896 UMLS:C0265234 Autosomal dominant Antenatal Childhood Infancy Neonatal Canada AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=107 BOR syndrome ORPHA:107 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007029 E (Exact mapping: the two concepts are equivalent) MeSH:D019280 E (Exact mapping: the two concepts are equivalent) MedDRA:10071135 E (Exact mapping: the two concepts are equivalent) OMIM:113650 E (Exact mapping: the two concepts are equivalent) OMIM:610896 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265234 E (Exact mapping: the two concepts are equivalent) A fish-borne zoonosis caused by the ingestion of third stage larvae of nematodes belonging to the genus <i>Anisakis</i>, present in fish or cephalopods. Following its penetration in the human gastrointestinal tract, the parasite can cause gastrointestinal classified as acute (manifesting as abdominal pain, diarrhea, nausea and vomiting), chronic, or ectopic reactions or allergic manifestations (urticaria, angioedema, anaphylactic shock). Orphanet ICD-10:B81.0 ICD-11:1F61 MONDO:0015200 MeSH:D017129 MedDRA:10002533 UMLS:C0162576 Adolescent Adult Childhood Elderly Japan AND has_annual_incidence_average_value : 1.6 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_annual_incidence_average_value : 0.32 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1070 Anisakiasis ORPHA:1070 ICD-10:B81.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F61 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015200 E (Exact mapping: the two concepts are equivalent) MeSH:D017129 E (Exact mapping: the two concepts are equivalent) MedDRA:10002533 E (Exact mapping: the two concepts are equivalent) UMLS:C0162576 E (Exact mapping: the two concepts are equivalent) AEC syndrome Hay-Wells syndrome An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MONDO:0007124 MeSH:C535847 OMIM:106260 UMLS:C0406709 Autosomal dominant Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007124 E (Exact mapping: the two concepts are equivalent) MeSH:C535847 E (Exact mapping: the two concepts are equivalent) OMIM:106260 E (Exact mapping: the two concepts are equivalent) UMLS:C0406709 E (Exact mapping: the two concepts are equivalent) A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal. Orphanet ICD-10:Q87.0 ICD-11:LD2F.1Y MONDO:0007123 OMIM:106250 UMLS:C1862866 Autosomal dominant Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome Clinical subtype ORPHA:1072 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007123 E (Exact mapping: the two concepts are equivalent) OMIM:106250 E (Exact mapping: the two concepts are equivalent) UMLS:C1862866 E (Exact mapping: the two concepts are equivalent) Aughton-Hufnagle syndrome A rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MONDO:0015201 UMLS:C4751231 Unknown Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1074 Historical entity Ankyloblepharon filiforme adnatum-imperforate anus syndrome Clinical subtype ORPHA:1074 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015201 E (Exact mapping: the two concepts are equivalent) UMLS:C4751231 E (Exact mapping: the two concepts are equivalent) Ankylosis of teeth A rare odontologic disorder characterized by the loss of the periodontal ligament space and orthodontic mobility. Orphanet ICD-10:K03.5 ICD-11:DA07.61 MONDO:0008007 MeSH:D020254 MedDRA:10044019 UMLS:C0155930 Adolescent Adult Childhood Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1077 Dental ankylosis ORPHA:1077 ICD-10:K03.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DA07.61 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0008007 E (Exact mapping: the two concepts are equivalent) MeSH:D020254 E (Exact mapping: the two concepts are equivalent) MedDRA:10044019 E (Exact mapping: the two concepts are equivalent) UMLS:C0155930 E (Exact mapping: the two concepts are equivalent) Piussan-Lenaerts-Mathieu syndrome A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990. Orphanet ICD-10:Q87.2 MONDO:0008563 MeSH:C537511 OMIM:188201 UMLS:C2931515 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1078 Historical entity Thumb stiffness-brachydactyly-intellectual disability syndrome ORPHA:1078 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0008563 E (Exact mapping: the two concepts are equivalent) MeSH:C537511 E (Exact mapping: the two concepts are equivalent) OMIM:188201 E (Exact mapping: the two concepts are equivalent) UMLS:C2931515 E (Exact mapping: the two concepts are equivalent) Babesiosis is an infectious disease caused by protozoa of the genus <i>Babesia</i> and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death. Orphanet ICD-10:B60.0 ICD-11:1F52 MONDO:0005661 MeSH:D001404 MedDRA:10003965 UMLS:C0004576 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108 Babesiosis ORPHA:108 ICD-10:B60.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F52 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0005661 E (Exact mapping: the two concepts are equivalent) MeSH:D001404 E (Exact mapping: the two concepts are equivalent) MedDRA:10003965 E (Exact mapping: the two concepts are equivalent) UMLS:C0004576 E (Exact mapping: the two concepts are equivalent) ICD-10:Q24.5 ICD-11:LA8C MONDO:0015203 MedDRA:10061060 UMLS:C0158623 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1081 Coronary artery congenital malformation Category ORPHA:1081 ICD-10:Q24.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LA8C - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015203 E (Exact mapping: the two concepts are equivalent) MedDRA:10061060 E (Exact mapping: the two concepts are equivalent) UMLS:C0158623 E (Exact mapping: the two concepts are equivalent) Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 MONDO:0015204 OMIM:614019 OMIM:616212 UMLS:C1956147 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1083 Microlissencephaly ORPHA:1083 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015204 E (Exact mapping: the two concepts are equivalent) OMIM:614019 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616212 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1956147 E (Exact mapping: the two concepts are equivalent) Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures. Orphanet ICD-10:Q04.3 ICD-11:LD20.1 MONDO:0015205 UMLS:C4275151 Unknown Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1084 Isolated lissencephaly type 1 without known genetic defects ORPHA:1084 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015205 E (Exact mapping: the two concepts are equivalent) UMLS:C4275151 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Rommen-Mueller-Sybert syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome ORPHA:1088 UMLS:C5681768 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108959 Non-syndromic esophageal malformation Category ORPHA:108959 UMLS:C5681768 E (Exact mapping: the two concepts are equivalent) UMLS:C5681763 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108961 Syndromic esophageal malformation Category ORPHA:108961 UMLS:C5681763 E (Exact mapping: the two concepts are equivalent) UMLS:C5681764 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108963 Non-syndromic gastroduodenal malformation Category ORPHA:108963 UMLS:C5681764 E (Exact mapping: the two concepts are equivalent) UMLS:C5681765 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108965 Syndromic gastroduodenal malformation Category ORPHA:108965 UMLS:C5681765 E (Exact mapping: the two concepts are equivalent) UMLS:C5681766 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108967 Non-syndromic intestinal malformation Category ORPHA:108967 UMLS:C5681766 E (Exact mapping: the two concepts are equivalent) UMLS:C5681760 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108969 Syndromic intestinal malformation Category ORPHA:108969 UMLS:C5681760 E (Exact mapping: the two concepts are equivalent) UMLS:C5681761 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108971 Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen Category ORPHA:108971 UMLS:C5681761 E (Exact mapping: the two concepts are equivalent) UMLS:C5681762 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108973 Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen Category ORPHA:108973 UMLS:C5681762 E (Exact mapping: the two concepts are equivalent) UMLS:C5681758 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108977 Non-syndromic diaphragmatic or abdominal wall malformation Category ORPHA:108977 UMLS:C5681758 E (Exact mapping: the two concepts are equivalent) UMLS:C5681759 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108979 Syndromic diaphragmatic or abdominal wall malformation Category ORPHA:108979 UMLS:C5681759 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Structural developmental eye defect OBSOLETE: Non-syndromic developmental defect of the eye ORPHA:108985 This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Structural developmental eye defect OBSOLETE: Syndromic developmental defect of the eye ORPHA:108987 UMLS:C5681757 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108989 Non-syndromic central nervous system malformation Category ORPHA:108989 UMLS:C5681757 E (Exact mapping: the two concepts are equivalent) UMLS:C5681756 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108991 Syndrome with a central nervous system malformation as a major feature Category ORPHA:108991 UMLS:C5681756 E (Exact mapping: the two concepts are equivalent) UMLS:C5681753 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108993 Non-syndromic respiratory or mediastinal malformation Category ORPHA:108993 UMLS:C5681753 E (Exact mapping: the two concepts are equivalent) UMLS:C5681752 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108995 Syndromic respiratory or mediastinal malformation Category ORPHA:108995 UMLS:C5681752 E (Exact mapping: the two concepts are equivalent) UMLS:C5681755 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108997 Rare anemia Category ORPHA:108997 UMLS:C5681755 E (Exact mapping: the two concepts are equivalent) UMLS:C5681754 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108999 Rare disorder due to toxic effects Category Head of classification ORPHA:108999 UMLS:C5681754 E (Exact mapping: the two concepts are equivalent) BRRS Myhre-Riley-Smith syndrome A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. Orphanet ICD-10:Q87.8 ICD-11:LD2D.Y MONDO:0007924 MedDRA:10080314 OMIM:158350 UMLS:C0265326 Autosomal dominant Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=109 Bannayan-Riley-Ruvalcaba syndrome Clinical subtype ORPHA:109 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007924 E (Exact mapping: the two concepts are equivalent) MedDRA:10080314 E (Exact mapping: the two concepts are equivalent) OMIM:158350 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0265326 E (Exact mapping: the two concepts are equivalent) ICD-11:LD26.4 MONDO:0015225 MeSH:D001176 UMLS:C0003886 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=109007 Arthrogryposis syndrome Category ORPHA:109007 ICD-11:LD26.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015225 E (Exact mapping: the two concepts are equivalent) MeSH:D001176 E (Exact mapping: the two concepts are equivalent) UMLS:C0003886 E (Exact mapping: the two concepts are equivalent) ICD-10:Q87.2 UMLS:C5681750 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=109009 Syndrome with limb malformations as a major feature Category ORPHA:109009 ICD-10:Q87.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5681750 E (Exact mapping: the two concepts are equivalent) UMLS:C5681749 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=109011 Non-syndromic limb malformation Category ORPHA:109011 UMLS:C5681749 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Mayer-Rokitansky-Küster-Hauser syndrome type 2 OMIM:267400 UMLS:C1849432 Renal-genital-middle ear anomalies ORPHA:1092 OMIM:267400 E (Exact mapping: the two concepts are equivalent) UMLS:C1849432 E (Exact mapping: the two concepts are equivalent) Teebi-Kaurah syndrome A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth. Orphanet ICD-10:Q87.8 MONDO:0011795 MeSH:C536948 OMIM:607214 UMLS:C2931373 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1094 Anonychia-microcephaly syndrome ORPHA:1094 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0011795 E (Exact mapping: the two concepts are equivalent) MeSH:C536948 E (Exact mapping: the two concepts are equivalent) OMIM:607214 E (Exact mapping: the two concepts are equivalent) UMLS:C2931373 E (Exact mapping: the two concepts are equivalent) 49,XXXXX syndrome Penta-X Poly-X Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX). Orphanet ICD-10:Q97.1 ICD-11:LD50.Y MONDO:0015228 MeSH:C535319 UMLS:C2937419 Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=11 Pentasomy X syndrome ORPHA:11 ICD-10:Q97.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD50.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015228 E (Exact mapping: the two concepts are equivalent) MeSH:C535319 E (Exact mapping: the two concepts are equivalent) UMLS:C2937419 E (Exact mapping: the two concepts are equivalent) BBS A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations. Orphanet ICD-10:Q87.8 ICD-11:5A61.0 MONDO:0015229 MeSH:D020788 MedDRA:10056715 OMIM:209900 OMIM:600151 OMIM:605231 OMIM:615981 OMIM:615982 OMIM:615983 OMIM:615984 OMIM:615985 OMIM:615986 OMIM:615987 OMIM:615988 OMIM:615989 OMIM:615990 OMIM:615991 OMIM:615992 OMIM:615993 OMIM:615994 OMIM:615995 OMIM:615996 OMIM:617119 OMIM:617406 UMLS:C0752166 Autosomal recessive Oligogenic Antenatal Childhood Infancy Neonatal Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_point_prevalence_average_value : 7.4 AND has_point_prevalence_range : 1-9 / 100 000 Tunisia AND has_point_prevalence_average_value : 0.64 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=110 Bardet-Biedl syndrome ORPHA:110 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5A61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015229 E (Exact mapping: the two concepts are equivalent) MeSH:D020788 E (Exact mapping: the two concepts are equivalent) MedDRA:10056715 E (Exact mapping: the two concepts are equivalent) OMIM:209900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600151 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605231 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615981 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615982 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615983 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615984 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615985 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615986 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615987 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615988 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615989 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615990 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615991 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615992 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615993 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615994 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615995 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615996 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617119 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617406 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0752166 E (Exact mapping: the two concepts are equivalent) Cassia Stocco dos Santos syndrome A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q87.8 MONDO:0015230 UMLS:C4304035 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1101 Historical entity Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome ORPHA:1101 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015230 E (Exact mapping: the two concepts are equivalent) UMLS:C4304035 E (Exact mapping: the two concepts are equivalent) 14q22 microdeletion syndrome Al Frayh-Facharzt-Haque syndrome Monosomy 14q22 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Septo-optic dysplasia spectrum Anophthalmia-hypothalamo-pituitary insufficiency syndrome ORPHA:1102 Fryns microphthalmia syndrome Microphthalmia with facial clefting A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. Orphanet ICD-10:Q87.8 ICD-11:LD21.0 MONDO:0010930 MeSH:C537767 OMIM:600776 UMLS:C1833339 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1104 Anophthalmia plus syndrome ORPHA:1104 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010930 E (Exact mapping: the two concepts are equivalent) MeSH:C537767 E (Exact mapping: the two concepts are equivalent) OMIM:600776 E (Exact mapping: the two concepts are equivalent) UMLS:C1833339 E (Exact mapping: the two concepts are equivalent) Anophthalmia-syndactyly syndrome OAS Ophthalmoacromelic syndrome Waardenburg anophthalmia syndrome A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly. Orphanet ICD-10:Q87.2 ICD-11:LD21.0 MONDO:0008800 MeSH:C537769 OMIM:206920 UMLS:C0599973 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 35.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1106 Microphthalmia with limb anomalies ORPHA:1106 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008800 E (Exact mapping: the two concepts are equivalent) MeSH:C537769 E (Exact mapping: the two concepts are equivalent) OMIM:206920 E (Exact mapping: the two concepts are equivalent) UMLS:C0599973 E (Exact mapping: the two concepts are equivalent) 3-methylglutaconic aciduria type 2 BTHS Cardioskeletal myopathy with neutropenia and abnormal mitochondria Cardioskeletal myopathy-neutropenia syndrome MGA2 X-linked cardioskeletal myopathy and neutropenia Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria. Orphanet ICD-10:E71.1 ICD-11:5C50.E0 MONDO:0010543 MeSH:D056889 MedDRA:10078537 OMIM:302060 UMLS:C0574083 X-linked recessive Childhood Europe AND has_point_prevalence_average_value : 0.22 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 0.15 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.71 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.29 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=111 Barth syndrome ORPHA:111 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010543 E (Exact mapping: the two concepts are equivalent) MeSH:D056889 E (Exact mapping: the two concepts are equivalent) MedDRA:10078537 E (Exact mapping: the two concepts are equivalent) OMIM:302060 E (Exact mapping: the two concepts are equivalent) UMLS:C0574083 E (Exact mapping: the two concepts are equivalent) A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968. Orphanet ICD-10:Q87.8 MONDO:0007143 MeSH:C537785 OMIM:107500 UMLS:C4706520 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1110 Historical entity Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome ORPHA:1110 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0007143 E (Exact mapping: the two concepts are equivalent) MeSH:C537785 E (Exact mapping: the two concepts are equivalent) OMIM:107500 E (Exact mapping: the two concepts are equivalent) UMLS:C4706520 E (Exact mapping: the two concepts are equivalent) Johnson-Munson syndrome An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. Orphanet ICD-10:Q87.8 MONDO:0008806 MeSH:C535881 OMIM:207620 UMLS:C1859754 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1112 Historical entity Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome ORPHA:1112 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0008806 E (Exact mapping: the two concepts are equivalent) MeSH:C535881 E (Exact mapping: the two concepts are equivalent) OMIM:207620 E (Exact mapping: the two concepts are equivalent) UMLS:C1859754 E (Exact mapping: the two concepts are equivalent) An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. Orphanet ICD-10:Q87.2 MONDO:0010882 OMIM:600384 UMLS:C4304033 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1113 Aphalangy-syndactyly-microcephaly syndrome ORPHA:1113 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0010882 E (Exact mapping: the two concepts are equivalent) OMIM:600384 E (Exact mapping: the two concepts are equivalent) UMLS:C4304033 E (Exact mapping: the two concepts are equivalent) A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies. Orphanet ICD-10:Q84.8 ICD-11:LC60 MONDO:0007145 MedDRA:10002963 OMIM:107600 OMIM:600360 UMLS:C0282160 Autosomal dominant Autosomal recessive Not applicable Antenatal Neonatal Denmark AND has_birth_prevalence_average_value : 7.69 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1114 Aplasia cutis congenita ORPHA:1114 ICD-10:Q84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LC60 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0007145 E (Exact mapping: the two concepts are equivalent) MedDRA:10002963 E (Exact mapping: the two concepts are equivalent) OMIM:107600 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:600360 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0282160 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Aplasia cutis congenita OBSOLETE: Recessive aplasia cutis congenita of limbs ORPHA:1115 Bronspiegel-Zelnick syndrome An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:Q84.8 ICD-11:LD27.Y MONDO:0008808 MeSH:C537788 OMIM:207731 UMLS:C4304031 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1116 Historical entity Aplasia cutis congenita-intestinal lymphangiectasia syndrome ORPHA:1116 ICD-10:Q84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008808 E (Exact mapping: the two concepts are equivalent) MeSH:C537788 E (Exact mapping: the two concepts are equivalent) OMIM:207731 E (Exact mapping: the two concepts are equivalent) UMLS:C4304031 E (Exact mapping: the two concepts are equivalent) Gershoni-Baruch-Leibo syndrome A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Orphanet ICD-10:Q84.8 ICD-11:LD27.Y MONDO:0010988 OMIM:601075 UMLS:C4304032 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1117 Aplasia cutis-myopia syndrome ORPHA:1117 ICD-10:Q84.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010988 E (Exact mapping: the two concepts are equivalent) OMIM:601075 E (Exact mapping: the two concepts are equivalent) UMLS:C4304032 E (Exact mapping: the two concepts are equivalent) A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. Orphanet ICD-10:Q73.8 ICD-11:LD26.0 MONDO:0007225 MeSH:C537930 OMIM:113310 UMLS:C4303759 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1118 Fibular aplasia-ectrodactyly syndrome ORPHA:1118 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007225 E (Exact mapping: the two concepts are equivalent) MeSH:C537930 E (Exact mapping: the two concepts are equivalent) OMIM:113310 E (Exact mapping: the two concepts are equivalent) UMLS:C4303759 E (Exact mapping: the two concepts are equivalent) Renal tubular normotensive hypokalemic alkalosis with hypercalciuria Salt-losing tubular disorder, Henle's loop type Salt-wasting tubulopathy, Henle's loop type Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. Orphanet ICD-10:E26.8 ICD-11:GB90.43 MONDO:0015231 MeSH:D001477 MedDRA:10050839 OMIM:241200 OMIM:300971 OMIM:601198 OMIM:601678 OMIM:602522 OMIM:607364 OMIM:613090 UMLS:C0004775 Autosomal dominant Autosomal recessive X-linked recessive Adolescent Adult Antenatal Childhood Infancy Neonatal Europe AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Kuwait AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=112 Bartter syndrome ORPHA:112 ICD-10:E26.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:GB90.43 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015231 E (Exact mapping: the two concepts are equivalent) MeSH:D001477 E (Exact mapping: the two concepts are equivalent) MedDRA:10050839 E (Exact mapping: the two concepts are equivalent) OMIM:241200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300971 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601198 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:601678 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602522 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607364 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613090 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0004775 E (Exact mapping: the two concepts are equivalent) Mardini-Nyhan syndrome A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported. Orphanet ICD-10:Q87.8 MONDO:0011116 OMIM:601612 UMLS:C4302918 Antenatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1120 Lung agenesis-heart defect-thumb anomalies syndrome ORPHA:1120 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0011116 E (Exact mapping: the two concepts are equivalent) OMIM:601612 E (Exact mapping: the two concepts are equivalent) UMLS:C4302918 E (Exact mapping: the two concepts are equivalent) Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996. Orphanet ICD-10:Q73.8 MONDO:0015232 UMLS:C5190823 Antenatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1121 Historical entity Radial deficiency-tibial hypoplasia syndrome ORPHA:1121 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015232 E (Exact mapping: the two concepts are equivalent) UMLS:C5190823 E (Exact mapping: the two concepts are equivalent) Ulnar hypoplasia-lobster-claw deformity of feet syndrome Van den Berghe-Dequecker syndrome A rare dysostosis with combined reduction of upper and lower limbs characterized by severe ulnar hypoplasia, absence of fingers two to five, and split-foot. Mostly both hands and feet are affected. Patients may also present with curved and broad radius with cortical thickening. There have been no further descriptions in the literature since 1978. Orphanet ICD-10:Q73.8 MONDO:0010750 MeSH:C536936 OMIM:314360 UMLS:C4518553 Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1122 Historical entity Ulnar hypoplasia-split foot syndrome ORPHA:1122 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0010750 E (Exact mapping: the two concepts are equivalent) MeSH:C536936 E (Exact mapping: the two concepts are equivalent) OMIM:314360 E (Exact mapping: the two concepts are equivalent) UMLS:C4518553 E (Exact mapping: the two concepts are equivalent) Caudal appendage-hearing loss syndrome Lynch-Lee-Murday syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by caudal appendage, short terminal phalanges and deafness. Additional clinical features may include short stature, intellectual disability, facial dysmorphism and cryptorchidism. There have been no further descriptions in the literature since 1994. Orphanet ICD-10:Q87.8 ICD-11:LD2H.Y MONDO:0015233 MeSH:C537713 UMLS:C2931593 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1123 Historical entity Caudal appendage-deafness syndrome ORPHA:1123 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015233 E (Exact mapping: the two concepts are equivalent) MeSH:C537713 E (Exact mapping: the two concepts are equivalent) UMLS:C2931593 E (Exact mapping: the two concepts are equivalent) Oculomotor apraxia, Cogan type Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the <i>NPHP1</i> gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type. Orphanet ICD-10:H51.8 ICD-11:9C82.4 MONDO:0009764 MeSH:C537423 OMIM:257550 UMLS:C0543874 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1125 Ocular motor apraxia, Cogan type ORPHA:1125 ICD-10:H51.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:9C82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0009764 E (Exact mapping: the two concepts are equivalent) MeSH:C537423 E (Exact mapping: the two concepts are equivalent) OMIM:257550 E (Exact mapping: the two concepts are equivalent) UMLS:C0543874 E (Exact mapping: the two concepts are equivalent) A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition. Orphanet ICD-10:Q04.3 ICD-11:LA05.Y MONDO:0011062 MeSH:C563331 OMIM:601374 UMLS:C1832412 Antenatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1126 Aprosencephaly cerebellar dysgenesis ORPHA:1126 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA05.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0011062 E (Exact mapping: the two concepts are equivalent) MeSH:C563331 E (Exact mapping: the two concepts are equivalent) OMIM:601374 E (Exact mapping: the two concepts are equivalent) UMLS:C1832412 E (Exact mapping: the two concepts are equivalent) Kosztolanyi syndrome A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability. Orphanet ICD-10:Q87.8 MONDO:0015234 MeSH:C537024 UMLS:C2931398 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 5.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome ORPHA:1129 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015234 E (Exact mapping: the two concepts are equivalent) MeSH:C537024 E (Exact mapping: the two concepts are equivalent) UMLS:C2931398 E (Exact mapping: the two concepts are equivalent) BDCS Follicular atrophoderma and basal cell carcinomas Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas. Orphanet ICD-10:L98.8 ICD-11:LD27.5 MONDO:0010535 MeSH:C537663 OMIM:301845 UMLS:C0346104 X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 143.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=113 Bazex-Dupré-Christol syndrome ORPHA:113 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010535 E (Exact mapping: the two concepts are equivalent) MeSH:C537663 E (Exact mapping: the two concepts are equivalent) OMIM:301845 E (Exact mapping: the two concepts are equivalent) UMLS:C0346104 E (Exact mapping: the two concepts are equivalent) De Die-Smulders-Vles-Fryns syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995. Orphanet ICD-10:Q87.8 MONDO:0015235 UMLS:C4304030 Unknown Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1130 Historical entity Arachnodactyly-intellectual disability-dysmorphism syndrome ORPHA:1130 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015235 E (Exact mapping: the two concepts are equivalent) UMLS:C4304030 E (Exact mapping: the two concepts are equivalent) Mandibulofacial dysostosis, Toriello type X-linked branchial arch syndrome X-linked mandibulofacial dysostosis with limb anomalies X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. Orphanet ICD-10:Q75.4 ICD-11:LD25.2 MONDO:0010539 MeSH:C537102 OMIM:301950 UMLS:C1844918 X-linked recessive Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1131 X-linked mandibulofacial dysostosis ORPHA:1131 ICD-10:Q75.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010539 E (Exact mapping: the two concepts are equivalent) MeSH:C537102 E (Exact mapping: the two concepts are equivalent) OMIM:301950 E (Exact mapping: the two concepts are equivalent) UMLS:C1844918 E (Exact mapping: the two concepts are equivalent) MONDO:0015236 UMLS:C5680872 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1132 Aortic arch defects Category ORPHA:1132 MONDO:0015236 E (Exact mapping: the two concepts are equivalent) UMLS:C5680872 E (Exact mapping: the two concepts are equivalent) Acrorenal defect-ectodermal dysplasia-diabetes syndrome A rare genetic ectodermal dysplasia syndrome characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MONDO:0008812 MeSH:C537427 OMIM:207780 UMLS:C0342280 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1133 Historical entity AREDYLD syndrome ORPHA:1133 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008812 E (Exact mapping: the two concepts are equivalent) MeSH:C537427 E (Exact mapping: the two concepts are equivalent) OMIM:207780 E (Exact mapping: the two concepts are equivalent) UMLS:C0342280 E (Exact mapping: the two concepts are equivalent) Isolated nose agenesis An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia. Orphanet ICD-10:Q30.1 ICD-11:LA70.0 MONDO:0015237 MeSH:C537438 UMLS:C0265740 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1134 Isolated arrhinia ORPHA:1134 ICD-10:Q30.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA70.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015237 E (Exact mapping: the two concepts are equivalent) MeSH:C537438 E (Exact mapping: the two concepts are equivalent) UMLS:C0265740 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome MONDO:0015238 UMLS:C1863878 Arrhinia-choanal atresia-microphthalmia syndrome ORPHA:1135 MONDO:0015238 E (Exact mapping: the two concepts are equivalent) UMLS:C1863878 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Arnold-Chiari malformation type 2 OBSOLETE: Chiari malformation type 2 OBSOLETE: Chiari malformation type II This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Open spinal dysraphism with a myelomeningocele OBSOLETE: Arnold-Chiari malformation type II ORPHA:1136 OBSOLETE: Kashani-Strom-Utley syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Pulmonary aortic stenosis obstructive uropathy ORPHA:1137 ICD-11:LA8B.1 MONDO:0015239 UMLS:C0265912 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1138 Abnormal origin of the pulmonary artery Clinical group ORPHA:1138 ICD-11:LA8B.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015239 E (Exact mapping: the two concepts are equivalent) UMLS:C0265912 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Non-syndromic cerebral malformation due to abnormal neuronal migration OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome ORPHA:1139 A rare primary bone dysplasia with multiple joint dislocations characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and short stature. Dysplasia of the radiocapitellar joint has been reported in all patients. There have been no further descriptions in the literature since 1967. Orphanet ICD-10:Q87.5 ICD-11:LD24.E MONDO:0007177 MeSH:C538271 OMIM:109000 UMLS:C1862381 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=114 Historical entity Auriculoosteodysplasia ORPHA:114 ICD-10:Q87.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007177 E (Exact mapping: the two concepts are equivalent) MeSH:C538271 E (Exact mapping: the two concepts are equivalent) OMIM:109000 E (Exact mapping: the two concepts are equivalent) UMLS:C1862381 E (Exact mapping: the two concepts are equivalent) A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. Orphanet ICD-10:Q74.3 ICD-11:LD26.41 MONDO:0008823 MeSH:C536614 OMIM:208100 UMLS:C1859721 Autosomal recessive Neonatal Europe AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1143 Neurogenic arthrogryposis multiplex congenita ORPHA:1143 ICD-10:Q74.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008823 E (Exact mapping: the two concepts are equivalent) MeSH:C536614 E (Exact mapping: the two concepts are equivalent) OMIM:208100 E (Exact mapping: the two concepts are equivalent) UMLS:C1859721 E (Exact mapping: the two concepts are equivalent) Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome Distal arthrogryposis type 6 A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. Orphanet ICD-10:Q68.8 ICD-11:LD26.4Y MONDO:0007159 MeSH:C535386 OMIM:108200 UMLS:C1862471 Unknown Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome ORPHA:1144 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007159 E (Exact mapping: the two concepts are equivalent) MeSH:C535386 E (Exact mapping: the two concepts are equivalent) OMIM:108200 E (Exact mapping: the two concepts are equivalent) UMLS:C1862471 E (Exact mapping: the two concepts are equivalent) SMAX2 Spinal muscular atrophy with arthrogryposis X-linked distal arthrogryposis multiplex congenita X-linked spinal muscular atrophy type 2 A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements <i>in utero</i> and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. Orphanet ICD-10:G12.1 ICD-11:8B61.Y MONDO:0010532 MeSH:C535380 OMIM:301830 UMLS:C1844934 X-linked recessive Neonatal Worldwide AND has_cases/families_value : 14.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1145 Infantile-onset X-linked spinal muscular atrophy ORPHA:1145 ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B61.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0010532 E (Exact mapping: the two concepts are equivalent) MeSH:C535380 E (Exact mapping: the two concepts are equivalent) OMIM:301830 E (Exact mapping: the two concepts are equivalent) UMLS:C1844934 E (Exact mapping: the two concepts are equivalent) DA1 Digitotalar dysmorphism A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported. Orphanet ICD-10:Q68.8 ICD-11:LD26.4Y MONDO:0015240 MeSH:C535378 OMIM:108120 OMIM:126050 OMIM:614335 OMIM:618435 OMIM:619110 UMLS:C0220662 Autosomal dominant Antenatal Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1146 Distal arthrogryposis type 1 ORPHA:1146 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015240 E (Exact mapping: the two concepts are equivalent) MeSH:C535378 E (Exact mapping: the two concepts are equivalent) OMIM:108120 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:126050 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614335 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618435 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619110 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0220662 E (Exact mapping: the two concepts are equivalent) DA2B Distal arthrogryposis multiplex congenita type 2B Distal arthrogryposis type 2B Freeman-Sheldon syndrome variant SSH A form of distal arthrogryposis characterized by multiple congenital non-progressive contractures of the distal joints of the limbs, in the absence of a primary neurological and/or muscle disease, and distinctive facial features, such as a triangular face shape, downslanting palpebral fissures, small mouth and high arched palate. Orphanet ICD-10:Q68.8 ICD-11:LD26.4Y MONDO:0011128 MeSH:C538400 OMIM:108120 OMIM:601680 OMIM:616266 OMIM:618435 OMIM:618436 UMLS:C1834523 Autosomal dominant Not applicable Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1147 Sheldon-Hall syndrome ORPHA:1147 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011128 E (Exact mapping: the two concepts are equivalent) MeSH:C538400 E (Exact mapping: the two concepts are equivalent) OMIM:108120 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:601680 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616266 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618435 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618436 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1834523 E (Exact mapping: the two concepts are equivalent) Arthrogryposis-like syndrome Kuskokwim disease A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested. Orphanet ICD-10:Q87.2 MONDO:0015241 MeSH:C538124 OMIM:259450 UMLS:C1859709 Autosomal recessive Childhood Neonatal Worldwide AND has_cases/families_value : 8.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1149 Kuskokwim syndrome ORPHA:1149 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015241 E (Exact mapping: the two concepts are equivalent) MeSH:C538124 E (Exact mapping: the two concepts are equivalent) OMIM:259450 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C1859709 E (Exact mapping: the two concepts are equivalent) Beals syndrome Beals-Hecht syndrome CCA syndrome Distal arthrogryposis type 9 A rare connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, kyphoscoliosis, abnormal pinnae and muscular hypoplasia. Orphanet ICD-10:Q68.8 ICD-11:LD28.00 MONDO:0007363 MeSH:C536211 OMIM:121050 UMLS:C0220668 Autosomal dominant Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=115 Congenital contractural arachnodactyly ORPHA:115 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD28.00 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0007363 E (Exact mapping: the two concepts are equivalent) MeSH:C536211 E (Exact mapping: the two concepts are equivalent) OMIM:121050 E (Exact mapping: the two concepts are equivalent) UMLS:C0220668 E (Exact mapping: the two concepts are equivalent) Illum syndrome An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence. Orphanet ICD-10:Q87.8 ICD-11:LD26.41 MONDO:0008825 MeSH:C538401 OMIM:208155 UMLS:C1859711 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1150 Arthrogryposis multiplex congenita-whistling face syndrome ORPHA:1150 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008825 E (Exact mapping: the two concepts are equivalent) MeSH:C538401 E (Exact mapping: the two concepts are equivalent) OMIM:208155 E (Exact mapping: the two concepts are equivalent) UMLS:C1859711 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Arthrogryposis multiplex congenita OBSOLETE: Transient neonatal arthrogryposis ORPHA:1153 Distal arthrogryposis type 5 Distal arthrogryposis type IIB Distal arthrogryposis with ophthalmoplegia Oculomelic amyoplasia An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal. Orphanet ICD-10:Q68.8 ICD-11:LD26.4Y MONDO:0007158 MeSH:C537737 OMIM:108145 UMLS:C1862472 Autosomal dominant Autosomal recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome ORPHA:1154 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007158 E (Exact mapping: the two concepts are equivalent) MeSH:C537737 E (Exact mapping: the two concepts are equivalent) OMIM:108145 E (Exact mapping: the two concepts are equivalent) UMLS:C1862472 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Arthrogryposis multiplex congenita OBSOLETE: Arthrogryposis due to muscular dystrophy ORPHA:1155 PPD Progressive pseudorheumatoid arthropathy of childhood Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome A rare spondyloepiphyseal dysplasia (SED) characterized by an association with progressive arthropathy. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MONDO:0008827 MeSH:C535387 OMIM:208230 UMLS:C0432215 Autosomal recessive Childhood Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1159 Progressive pseudorheumatoid dysplasia ORPHA:1159 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008827 E (Exact mapping: the two concepts are equivalent) MeSH:C535387 E (Exact mapping: the two concepts are equivalent) OMIM:208230 E (Exact mapping: the two concepts are equivalent) UMLS:C0432215 E (Exact mapping: the two concepts are equivalent) BWS Exomphalos-macroglossia-gigantism syndrome Wiedemann-Beckwith syndrome Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. Orphanet ICD-10:Q87.3 ICD-11:LD2C MONDO:0007534 MeSH:D001506 MedDRA:10050344 OMIM:130650 UMLS:C0004903 Autosomal dominant Unknown Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Jamaica AND has_birth_prevalence_average_value : 7.4 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 5.25 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=116 Beckwith-Wiedemann syndrome ORPHA:116 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007534 E (Exact mapping: the two concepts are equivalent) MeSH:D001506 E (Exact mapping: the two concepts are equivalent) MedDRA:10050344 E (Exact mapping: the two concepts are equivalent) OMIM:130650 E (Exact mapping: the two concepts are equivalent) UMLS:C0004903 E (Exact mapping: the two concepts are equivalent) Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain. Orphanet ICD-10:I89.8 ICD-11:DC51.0 MONDO:0008829 MeSH:D002915 MedDRA:10003446 OMIM:208300 UMLS:C0008732 All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1160 Chylous ascites ORPHA:1160 ICD-10:I89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:DC51.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0008829 E (Exact mapping: the two concepts are equivalent) MeSH:D002915 E (Exact mapping: the two concepts are equivalent) MedDRA:10003446 E (Exact mapping: the two concepts are equivalent) OMIM:208300 E (Exact mapping: the two concepts are equivalent) UMLS:C0008732 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:F84.5 NON RARE IN EUROPE: Asperger syndrome ORPHA:1162 ICD-10:F84.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). A rare infectious disease caused by inhalation of the opportunistic fungus <i>aspergillus</i> that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar. Orphanet ICD-10:B44.0 ICD-10:B44.1 ICD-10:B44.2 ICD-10:B44.7 ICD-10:B44.8 ICD-10:B44.9 ICD-11:1F20 ICD-11:1F20.0 ICD-11:1F20.1 MONDO:0005657 MeSH:D001228 MedDRA:10003488 OMIM:614079 UMLS:C0004030 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1163 Aspergillosis ORPHA:1163 ICD-10:B44.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B44.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B44.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B44.7 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B44.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B44.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F20 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F20.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F20.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0005657 E (Exact mapping: the two concepts are equivalent) MeSH:D001228 E (Exact mapping: the two concepts are equivalent) MedDRA:10003488 E (Exact mapping: the two concepts are equivalent) OMIM:614079 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0004030 E (Exact mapping: the two concepts are equivalent) ABPA Allergic aspergillosis Hinson-Pepys disease A rare immunologic pulmonary disorder caused by hypersensitivity to <i>Aspergillus fumigatus</i>, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates. Orphanet ICD-10:B44.1+ ICD-10:J99.8* ICD-11:CA82.4 MONDO:0015243 MeSH:D001229 MedDRA:10006474 OMIM:103920 UMLS:C0004031 Not applicable Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1164 Allergic bronchopulmonary aspergillosis ORPHA:1164 ICD-10:B44.1+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:J99.8* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CA82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015243 E (Exact mapping: the two concepts are equivalent) MeSH:D001229 E (Exact mapping: the two concepts are equivalent) MedDRA:10006474 E (Exact mapping: the two concepts are equivalent) OMIM:103920 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0004031 E (Exact mapping: the two concepts are equivalent) Isolated asymmetric crying facies A rare, isolated, congenital, head and neck morphological anomaly characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies. Orphanet ICD-10:Q87.0 MONDO:0007443 MeSH:C535349 UMLS:C0431406 Autosomal dominant Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1166 Congenital unilateral hypoplasia of depressor anguli oris ORPHA:1166 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0007443 E (Exact mapping: the two concepts are equivalent) MeSH:C535349 E (Exact mapping: the two concepts are equivalent) UMLS:C0431406 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Familial partial epilepsy OBSOLETE: Facial asymmetry-temporal seizures syndrome ORPHA:1167 AOA1 A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. Orphanet ICD-10:G11.3 ICD-11:5C53.22 MONDO:0008842 MeSH:C538013 OMIM:208920 UMLS:C1859598 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1168 Ataxia-oculomotor apraxia type 1 ORPHA:1168 ICD-10:G11.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.22 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008842 E (Exact mapping: the two concepts are equivalent) MeSH:C538013 E (Exact mapping: the two concepts are equivalent) OMIM:208920 E (Exact mapping: the two concepts are equivalent) UMLS:C1859598 E (Exact mapping: the two concepts are equivalent) A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. Orphanet ICD-10:M35.2 ICD-11:4A62 MONDO:0007191 MeSH:D001528 MedDRA:10004213 OMIM:109650 UMLS:C0004943 Multigenic/multifactorial Adolescent Adult Childhood Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 7.1 AND has_point_prevalence_range : 1-9 / 100 000 Iran, Islamic Republic of AND has_annual_incidence_average_value : 0.58 AND has_annual_incidence_range : 1-9 / 1 000 000 Iran, Islamic Republic of AND has_point_prevalence_average_value : 16.7 AND has_point_prevalence_range : 1-5 / 10 000 Israel AND has_point_prevalence_average_value : 15.2 AND has_point_prevalence_range : 1-5 / 10 000 Italy AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Korea, Republic of AND has_annual_incidence_average_value : 1.51 AND has_annual_incidence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 Saudi Arabia AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Spain AND has_annual_incidence_average_value : 0.66 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_average_value : 1.2 AND has_point_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_annual_incidence_average_value : 0.8 AND has_annual_incidence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000 Turkey AND has_point_prevalence_average_value : 225.0 AND has_point_prevalence_range : >1 / 1000 United Kingdom AND has_point_prevalence_average_value : 11.1 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_point_prevalence_average_value : 5.2 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=117 Behçet disease ORPHA:117 ICD-10:M35.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:4A62 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0007191 E (Exact mapping: the two concepts are equivalent) MeSH:D001528 E (Exact mapping: the two concepts are equivalent) MedDRA:10004213 E (Exact mapping: the two concepts are equivalent) OMIM:109650 E (Exact mapping: the two concepts are equivalent) UMLS:C0004943 E (Exact mapping: the two concepts are equivalent) Autosomal recessive spinocerebellar ataxia type 2 SCAR2 A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy. Orphanet ICD-10:G11.0 MONDO:0008943 MeSH:C565865 OMIM:213200 UMLS:C1859298 Autosomal recessive Adolescent Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1170 Autosomal recessive cerebelloparenchymal disorder type 3 ORPHA:1170 ICD-10:G11.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0008943 E (Exact mapping: the two concepts are equivalent) MeSH:C565865 E (Exact mapping: the two concepts are equivalent) OMIM:213200 E (Exact mapping: the two concepts are equivalent) UMLS:C1859298 E (Exact mapping: the two concepts are equivalent) CAPOS syndrome Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements. Orphanet ICD-10:G11.1 MONDO:0011038 MeSH:C535351 OMIM:601338 UMLS:C1832466 Autosomal dominant Mitochondrial inheritance Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ORPHA:1171 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0011038 E (Exact mapping: the two concepts are equivalent) MeSH:C535351 E (Exact mapping: the two concepts are equivalent) OMIM:601338 E (Exact mapping: the two concepts are equivalent) UMLS:C1832466 E (Exact mapping: the two concepts are equivalent) ARCA A group of rare early-onset ataxias with dementia characterized by degeneration or abnormal development of the cerebellum and spinal cord. It is a heterogeneous group including disorders that involves both the central and peripheral nervous system (and in some cases other systems and organs), therefore besides ataxia, patients often present with polyneuropathy and clinical symptoms outside the nervous system. It comprises more than half of the known genetic forms of ataxia including congenital ataxias, ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias and ataxias associated with other features. Orphanet MONDO:0015244 UMLS:C5575375 Autosomal recessive All ages Europe AND has_point_prevalence_average_value : 3.6 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 5.3 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1172 Autosomal recessive cerebellar ataxia Clinical group ORPHA:1172 MONDO:0015244 E (Exact mapping: the two concepts are equivalent) UMLS:C5575375 E (Exact mapping: the two concepts are equivalent) Gordon-Holmes syndrome Luteinizing hormone-releasing hormone deficiency with ataxia Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome. Orphanet ICD-10:G11.8 MONDO:0008935 MeSH:C565870 OMIM:212840 OMIM:605672 UMLS:C1859305 Autosomal recessive Adolescent Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1173 Cerebellar ataxia-hypogonadism syndrome ORPHA:1173 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0008935 E (Exact mapping: the two concepts are equivalent) MeSH:C565870 E (Exact mapping: the two concepts are equivalent) OMIM:212840 E (Exact mapping: the two concepts are equivalent) OMIM:605672 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1859305 E (Exact mapping: the two concepts are equivalent) A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. Orphanet ICD-10:G11.1 ICD-11:LD27.0Y MONDO:0008934 MeSH:C535350 OMIM:212835 UMLS:C1859306 Autosomal recessive Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1174 Cerebellar ataxia-ectodermal dysplasia syndrome ORPHA:1174 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008934 E (Exact mapping: the two concepts are equivalent) MeSH:C535350 E (Exact mapping: the two concepts are equivalent) OMIM:212835 E (Exact mapping: the two concepts are equivalent) UMLS:C1859306 E (Exact mapping: the two concepts are equivalent) A rare X-linked cerebellar ataxia, characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities. Orphanet ICD-10:G11.1 ICD-11:8A03.1Y MONDO:0010547 OMIM:302500 OMIM:302800 UMLS:C5231313 X-linked recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1175 X-linked progressive cerebellar ataxia ORPHA:1175 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010547 E (Exact mapping: the two concepts are equivalent) OMIM:302500 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:302800 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C5231313 E (Exact mapping: the two concepts are equivalent) UMLS:C5681751 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=117569 Rare intestinal disease Category ORPHA:117569 UMLS:C5681751 E (Exact mapping: the two concepts are equivalent) UMLS:C5681738 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=117573 Syndromic anorectal malformation Category ORPHA:117573 UMLS:C5681738 E (Exact mapping: the two concepts are equivalent) Xq26.2 CENP-31 KIAA1823 MGC14797 centromere protein 31 ClinVar:PHF6 Ensembl:ENSG00000156531 Genatlas:PHF6 HGNC:18145 OMIM:300414 SwissProt:Q8IWS0 PHF6 PHD finger protein 6 17q25.3 AF17q25 KIAA0991 MSF1 Ov/Br septin PNUTL4 SeptD1 peanut-like 4 (Drosophila) ClinVar:SEPTIN9 Ensembl:ENSG00000184640 Genatlas:SEPT9 HGNC:7323 OMIM:604061 SwissProt:Q9UHD8 SEPTIN9 septin 9 12q13.13 Allgrove, triple-A adracalin aladin ClinVar:AAAS Ensembl:ENSG00000094914 Genatlas:AAAS HGNC:13666 OMIM:605378 Reactome:Q9NRG9 SwissProt:Q9NRG9 AAAS aladin WD repeat nucleoporin 16p13.2 4-aminobutyrate transaminase GABA transaminase GABA-T GABAT gamma-aminobutyrate aminotransferase ClinVar:ABAT Ensembl:ENSG00000183044 Genatlas:ABAT HGNC:23 IUPHAR:2464 OMIM:137150 Reactome:P80404 SwissProt:P80404 ABAT 4-aminobutyrate aminotransferase 2q35 DKFZP434G232 LI2 ClinVar:ABCA12 Ensembl:ENSG00000144452 Genatlas:ABCA12 HGNC:14637 IUPHAR:766 OMIM:607800 Reactome:Q86UK0 SwissProt:Q86UK0 ABCA12 ATP binding cassette subfamily A member 12 1p22.1 ARMD2 CORD3 FFM Stargardt disease ClinVar:ABCA4 Ensembl:ENSG00000198691 Genatlas:ABCA4 HGNC:34 IUPHAR:759 OMIM:601691 Reactome:P78363 SwissProt:P78363 ABCA4 ATP binding cassette subfamily A member 4 2q31.1 ABC member 16, MDR/TAP subfamily ABC16 PFIC-2 PGY4 SPGP ClinVar:ABCB11 Ensembl:ENSG00000073734 Genatlas:ABCB11 HGNC:42 IUPHAR:778 OMIM:603201 Reactome:O95342 SwissProt:O95342 ABCB11 ATP binding cassette subfamily B member 11 7q21.12 GBD1 MDR2 PFIC-3 ClinVar:ABCB4 Ensembl:ENSG00000005471 Genatlas:ABCB4 HGNC:45 IUPHAR:771 OMIM:171060 Reactome:P21439 SwissProt:P21439 ABCB4 ATP binding cassette subfamily B member 4 Xq13.3 ASAT Atm1p EST140535 ClinVar:ABCB7 Ensembl:ENSG00000131269 Genatlas:ABCB7 HGNC:48 IUPHAR:774 OMIM:300135 Reactome:O75027 SwissProt:O75027 ABCB7 ATP binding cassette subfamily B member 7 10q24.2 DJS MRP2 cMRP ClinVar:ABCC2 Ensembl:ENSG00000023839 Genatlas:ABCC2 HGNC:53 IUPHAR:780 OMIM:601107 Reactome:Q92887 SwissProt:Q92887 ABCC2 ATP binding cassette subfamily C member 2 16p13.11 EST349056 MLP1 MRP6 URG7 ClinVar:ABCC6 Ensembl:ENSG00000091262 Genatlas:ABCC6 HGNC:57 IUPHAR:784 OMIM:603234 Reactome:O95255 SwissProt:O95255 ABCC6 ATP binding cassette subfamily C member 6 11p15.1 ABC36 HHF1 HI MRP8 PHHI SUR1 TNDM2 sulfonylurea receptor (hyperinsulinemia) ClinVar:ABCC8 Ensembl:ENSG00000006071 Genatlas:ABCC8 HGNC:59 IUPHAR:2594 OMIM:600509 Reactome:Q09428 SwissProt:Q09428 ABCC8 ATP binding cassette subfamily C member 8 12p12.1 CMD1O SUR2 sulfonylurea receptor 2 ClinVar:ABCC9 Ensembl:ENSG00000069431 Genatlas:ABCC9 HGNC:60 IUPHAR:2746 OMIM:601439 Reactome:O60706 SwissProt:O60706 ABCC9 ATP binding cassette subfamily C member 9 Xq28 ALDP AMN adrenoleukodystrophy ClinVar:ABCD1 Ensembl:ENSG00000101986 Genatlas:ABCD1 HGNC:61 IUPHAR:788 OMIM:300371 Reactome:P33897 SwissProt:P33897 ABCD1 ATP binding cassette subfamily D member 1 2p21 STSL sterolin 1 ClinVar:ABCG5 Ensembl:ENSG00000138075 Genatlas:ABCG5 HGNC:13886 IUPHAR:794 OMIM:605459 Reactome:Q9H222 SwissProt:Q9H222 ABCG5 ATP binding cassette subfamily G member 5 2p21 GBD4 gallbladder disease 4 sterolin 2 ClinVar:ABCG8 Ensembl:ENSG00000143921 Genatlas:ABCG8 HGNC:13887 IUPHAR:795 OMIM:605460 Reactome:Q9H221 SwissProt:Q9H221 ABCG8 ATP binding cassette subfamily G member 8 3p21.33 CGI-58 NCIE2 ClinVar:ABHD5 Ensembl:ENSG00000011198 Genatlas:ABHD5 HGNC:21396 OMIM:604780 Reactome:Q8WTS1 SwissProt:Q8WTS1 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase 9q34.12 JTK7 c-ABL p150 ClinVar:ABL1 Ensembl:ENSG00000097007 Genatlas:ABL1 HGNC:76 IUPHAR:1923 OMIM:189980 Reactome:P00519 SwissProt:P00519 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase EOCA EOCARR Harding ataxia Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss. Orphanet ICD-10:G11.1 ICD-11:8A03.1Y MONDO:0008938 MeSH:C535633 OMIM:212895 UMLS:C0393520 Autosomal recessive Adolescent Adult Childhood Europe AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 2.08 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1177 Early-onset cerebellar ataxia with retained tendon reflexes ORPHA:1177 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A03.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008938 E (Exact mapping: the two concepts are equivalent) MeSH:C535633 E (Exact mapping: the two concepts are equivalent) OMIM:212895 E (Exact mapping: the two concepts are equivalent) UMLS:C0393520 E (Exact mapping: the two concepts are equivalent) 1p31.1 ACAD1 MCAD MCADH medium-chain acyl-CoA dehydrogenase ClinVar:ACADM Ensembl:ENSG00000117054 Genatlas:ACADM HGNC:89 OMIM:607008 Reactome:P11310 SwissProt:P11310 ACADM acyl-CoA dehydrogenase medium chain 12q24.31 ACAD3 SCAD ClinVar:ACADS Ensembl:ENSG00000122971 Genatlas:ACADS HGNC:90 OMIM:606885 Reactome:P16219 SwissProt:P16219 ACADS acyl-CoA dehydrogenase short chain 10q26.13 ACAD7 SBCAD ClinVar:ACADSB Ensembl:ENSG00000196177 Genatlas:ACADSB HGNC:91 OMIM:600301 Reactome:P45954 SwissProt:P45954 ACADSB acyl-CoA dehydrogenase short/branched chain 17p13.1 ACAD6 LCACD VLCAD ClinVar:ACADVL Ensembl:ENSG00000072778 Genatlas:ACADVL HGNC:92 OMIM:609575 Reactome:P49748 SwissProt:P49748 ACADVL acyl-CoA dehydrogenase very long chain 15q26.1 CSPGCP aggrecan proteoglycan ClinVar:ACAN Ensembl:ENSG00000157766 Genatlas:ACAN HGNC:319 OMIM:155760 Reactome:P16112 SwissProt:P16112 ACAN aggrecan 11q22.3 THIL acetoacetyl Coenzyme A thiolase ClinVar:ACAT1 Ensembl:ENSG00000075239 Genatlas:ACAT1 HGNC:93 IUPHAR:2435 OMIM:607809 Reactome:P24752 SwissProt:P24752 ACAT1 acetyl-CoA acetyltransferase 1 17q23.3 ACE1 CD143 peptidyl-dipeptidase A ClinVar:ACE Ensembl:ENSG00000159640 Genatlas:ACE HGNC:2707 IUPHAR:1613 OMIM:106180 Reactome:P12821 SwissProt:P12821 ACE angiotensin I converting enzyme 17q25.1 PALMCOX palmitoyl-CoA oxidase ClinVar:ACOX1 Ensembl:ENSG00000161533 Genatlas:ACOX1 HGNC:119 OMIM:609751 Reactome:Q15067 SwissProt:Q15067 ACOX1 acyl-CoA oxidase 1 Xq23 ACS4 LACS4 lignoceroyl-CoA synthase long-chain fatty-acid-Coenzyme A ligase 4 ClinVar:ACSL4 Ensembl:ENSG00000068366 Genatlas:ACSL4 HGNC:3571 OMIM:300157 Reactome:O60488 SwissProt:O60488 ACSL4 acyl-CoA synthetase long chain family member 4 1q42.13 NEM3 nemaline myopathy type 3 ClinVar:ACTA1 Ensembl:ENSG00000143632 Genatlas:ACTA1 HGNC:129 OMIM:102610 Reactome:P68133 SwissProt:P68133 ACTA1 actin alpha 1, skeletal muscle 15q14 CMD1R ClinVar:ACTC1 Ensembl:ENSG00000159251 Genatlas:ACTC1 HGNC:143 OMIM:102540 Reactome:P68032 SwissProt:P68032 ACTC1 actin alpha cardiac muscle 1 19q13.2 ClinVar:ACTN4 Ensembl:ENSG00000130402 Genatlas:ACTN4 HGNC:166 OMIM:604638 Reactome:O43707 SwissProt:O43707 ACTN4 actinin alpha 4 2q24.1 ACVR1A ALK2 SKR1 ClinVar:ACVR1 Ensembl:ENSG00000115170 Genatlas:ACVR1 HGNC:171 IUPHAR:1785 OMIM:102576 SwissProt:Q04771 ACVR1 activin A receptor type 1 12q13.13 ALK1 HHT HHT2 activin receptor-like kinase 1 ClinVar:ACVRL1 Ensembl:ENSG00000139567 Genatlas:ACVRL1 HGNC:175 IUPHAR:1784 OMIM:601284 Reactome:P37023 SwissProt:P37023 ACVRL1 activin A receptor like type 1 20q13.12 ADA1 ClinVar:ADA Ensembl:ENSG00000196839 Genatlas:ADA HGNC:186 IUPHAR:1230 OMIM:608958 Reactome:P00813 SwissProt:P00813 ADA adenosine deaminase 19p13.2 ADAM-TS10 ClinVar:ADAMTS10 Ensembl:ENSG00000142303 Genatlas:ADAMTS10 HGNC:13201 IUPHAR:1683 OMIM:608990 Reactome:Q9H324 SwissProt:Q9H324 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 9q34.2 DKFZp434C2322 FLJ42993 MGC118899 MGC118900 TTP VWFCP vWF-CP ClinVar:ADAMTS13 Ensembl:ENSG00000160323 Genatlas:ADAMTS13 HGNC:1366 IUPHAR:1685 OMIM:604134 Reactome:Q76LX8 SwissProt:Q76LX8 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 5q35.3 ADAM-TS2 ADAMTS-3 NPI PCINP hPCPNI procollagen I N-proteinase procollagen N-endopeptidase ClinVar:ADAMTS2 Ensembl:ENSG00000087116 Genatlas:ADAMTS2 HGNC:218 IUPHAR:1675 OMIM:604539 Reactome:O95450 SwissProt:O95450 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 1p12 D-3-phosphoglycerate dehydrogenase PDG PGDH SERA ClinVar:PHGDH Ensembl:ENSG00000092621 Genatlas:PHGDH HGNC:8923 OMIM:606879 Reactome:O43175 SwissProt:O43175 PHGDH phosphoglycerate dehydrogenase Xq13.1 ClinVar:PHKA1 Ensembl:ENSG00000067177 Genatlas:PHKA1 HGNC:8925 OMIM:311870 Reactome:P46020 SwissProt:P46020 PHKA1 phosphorylase kinase regulatory subunit alpha 1 Xp22.13 ClinVar:PHKA2 Ensembl:ENSG00000044446 Genatlas:PHKA2 HGNC:8926 OMIM:300798 Reactome:P46019 SwissProt:P46019 PHKA2 phosphorylase kinase regulatory subunit alpha 2 16q12.1 ClinVar:PHKB Ensembl:ENSG00000102893 Genatlas:PHKB HGNC:8927 OMIM:172490 Reactome:Q93100 SwissProt:Q93100 PHKB phosphorylase kinase regulatory subunit beta 11q13.4 CFEOM2 PMX2A ClinVar:PHOX2A Ensembl:ENSG00000165462 Genatlas:PHOX2A HGNC:691 OMIM:602753 SwissProt:O14813 PHOX2A paired like homeobox 2A A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963. Orphanet ICD-10:G11.1 MONDO:0010095 OMIM:272600 UMLS:C5190865 Unknown Adolescent Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1178 Historical entity Ataxia-tapetoretinal degeneration syndrome ORPHA:1178 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0010095 E (Exact mapping: the two concepts are equivalent) OMIM:272600 E (Exact mapping: the two concepts are equivalent) UMLS:C5190865 E (Exact mapping: the two concepts are equivalent) 4p13 NBPhox Phox2b ClinVar:PHOX2B Ensembl:ENSG00000109132 Genatlas:PHOX2B HGNC:9143 OMIM:603851 SwissProt:Q99453 PHOX2B paired like homeobox 2B 10p13 PAHX PHYH1 RD Refsum disease phytanoyl-CoA dioxygenase ClinVar:PHYH Ensembl:ENSG00000107537 Genatlas:PHYH HGNC:8940 OMIM:602026 Reactome:O14832 SwissProt:O14832 PHYH phytanoyl-CoA 2-hydroxylase 1q23.2 DPM:GlcN-(acyl-)PI mannosyltransferase GPI mannosyltransferase 1 GPI-MT-I PIG-M dol-P-Man dependent GPI mannosyltransferase ClinVar:PIGM Ensembl:ENSG00000143315 Genatlas:PIGM HGNC:18858 OMIM:610273 Reactome:Q9H3S5 SwissProt:Q9H3S5 PIGM phosphatidylinositol glycan anchor biosynthesis class M 3q26.32 PI3K ClinVar:PIK3CA Ensembl:ENSG00000121879 Genatlas:PIK3CA HGNC:8975 IUPHAR:2153 OMIM:171834 Reactome:P42336 SwissProt:P42336 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 1p36.12 BRPK ClinVar:PINK1 Ensembl:ENSG00000158828 Genatlas:PINK1 HGNC:14581 IUPHAR:2161 OMIM:608309 Reactome:Q9BXM7 SwissProt:Q9BXM7 PINK1 PTEN induced kinase 1 2q34 FAB1 KIAA0981 MGC40423 PIKfyve PIP5K ZFYVE29 p235 zinc finger, FYVE domain containing 29 ClinVar:PIKFYVE Ensembl:ENSG00000115020 Genatlas:PIKFYVE HGNC:23785 IUPHAR:2857 OMIM:609414 Reactome:Q9Y2I7 SwissProt:Q9Y2I7 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing 4q25 ARP1 Brx1 IGDS Otlx2 RS ClinVar:PITX2 Ensembl:ENSG00000164093 Genatlas:PITX2 HGNC:9005 OMIM:601542 Reactome:Q99697 SwissProt:Q99697 PITX2 paired like homeodomain 2 10q24.32 ClinVar:PITX3 Ensembl:ENSG00000107859 Genatlas:PITX3 HGNC:9006 OMIM:602669 SwissProt:O75364 PITX3 paired like homeodomain 3 16p13.3 PBP Pc-1 TRPP1 polycystin 1 transient receptor potential cation channel, subfamily P, member 1 ClinVar:PKD1 Ensembl:ENSG00000008710 Genatlas:PKD1 HGNC:9008 OMIM:601313 Reactome:P98161 SwissProt:P98161 PKD1 polycystin 1, transient receptor potential channel interacting 4q22.1 PC2 PKD4 Pc-2 TRPP2 transient receptor potential cation channel, subfamily P, member 2 ClinVar:PKD2 Ensembl:ENSG00000118762 Genatlas:PKD2 HGNC:9009 IUPHAR:504 OMIM:173910 Reactome:Q13563 SwissProt:Q13563 PKD2 polycystin 2, transient receptor potential cation channel 6p12.3-p12.2 ARPKD FCYT FPC fibrocystin fibrocystin/polyductin complex polyductin tigmin ClinVar:PKHD1 Ensembl:ENSG00000170927 Genatlas:PKHD1 HGNC:9016 OMIM:606702 SwissProt:P08F94 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 1q22 ClinVar:PKLR Ensembl:ENSG00000143627 Genatlas:PKLR HGNC:9020 IUPHAR:3007 OMIM:609712 Reactome:P30613 SwissProt:P30613 PKLR pyruvate kinase L/R 1q32.1 B6P ectodermal dysplasia/skin fragility syndrome ClinVar:PKP1 Ensembl:ENSG00000081277 Genatlas:PKP1 HGNC:9023 OMIM:601975 Reactome:Q13835 SwissProt:Q13835 PKP1 plakophilin 1 12p11.21 ClinVar:PKP2 Ensembl:ENSG00000057294 Genatlas:PKP2 HGNC:9024 OMIM:602861 Reactome:Q99959 SwissProt:Q99959 PKP2 plakophilin 2 22q13.1 NBIA2 Neurodegeneration with brain iron accumulation 2 PARK14 PNPLA9 iPLA2 iPLA2beta neurodegeneration with brain iron accumulation 2 ClinVar:PLA2G6 Ensembl:ENSG00000184381 Genatlas:PLA2G6 HGNC:9039 IUPHAR:1431 OMIM:603604 Reactome:O60733 SwissProt:O60733 PLA2G6 phospholipase A2 group VI 8q24.3 PCN PLTN ClinVar:PLEC Ensembl:ENSG00000178209 Genatlas:PLEC HGNC:9069 OMIM:601282 Reactome:Q15149 SwissProt:Q15149 PLEC plectin 16q22.1 ARHGEF44 DKFZP434I216 puratrophin-1 ClinVar:PLEKHG4 Ensembl:ENSG00000196155 Genatlas:PLEKHG4 HGNC:24501 OMIM:609526 Reactome:Q58EX7 SwissProt:Q58EX7 PLEKHG4 pleckstrin homology and RhoGEF domain containing G4 6q26 ClinVar:PLG Ensembl:ENSG00000122194 Genatlas:PLG HGNC:9071 IUPHAR:2394 OMIM:173350 Reactome:P00747 SwissProt:P00747 PLG plasminogen 1p36.22 LH1 lysyl hydroxlase 1 procollagen lysyl hydroxylase 1 ClinVar:PLOD1 Ensembl:ENSG00000083444 Genatlas:PLOD1 HGNC:9081 OMIM:153454 Reactome:Q02809 SwissProt:Q02809 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 3q24 LH2 TLH lysyl hydroxlase 2 procollagen lysyl hydroxylase 2 procollagen-lysine 5-dioxygenase telopeptidyl lysyl hydroxylase ClinVar:PLOD2 Ensembl:ENSG00000152952 Genatlas:PLOD2 HGNC:9082 OMIM:601865 Reactome:O00469 SwissProt:O00469 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 Xq22.2 GPM6C Pelizaeus-Merzbacher disease ClinVar:PLP1 Ensembl:ENSG00000123560 Genatlas:PLP1 HGNC:9086 OMIM:300401 SwissProt:P60201 PLP1 proteolipid protein 1 15q24.1 MYL RNF71 TRIM19 ClinVar:PML Ensembl:ENSG00000140464 Genatlas:PML HGNC:9113 OMIM:102578 Reactome:P29590 SwissProt:P29590 PML PML nuclear body scaffold Ouvrier-Billson syndrome Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset. Orphanet ICD-10:G96.8 ICD-11:9C83.11 MONDO:0008206 MeSH:C566817 OMIM:168885 UMLS:C1868576 Infancy Neonatal Worldwide AND has_cases/families_value : 12.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1179 Benign paroxysmal tonic upgaze of childhood with ataxia ORPHA:1179 ICD-10:G96.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C83.11 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008206 E (Exact mapping: the two concepts are equivalent) MeSH:C566817 E (Exact mapping: the two concepts are equivalent) OMIM:168885 E (Exact mapping: the two concepts are equivalent) UMLS:C1868576 E (Exact mapping: the two concepts are equivalent) 16p13.2 CDG1a CDGS Congenital disorder of glycosylation, type Ia PMI PMI1 mannose-6-phosphate isomerase phosphomannose isomerase 1 ClinVar:PMM2 Ensembl:ENSG00000140650 Genatlas:PMM2 HGNC:9115 OMIM:601785 Reactome:O15305 SwissProt:O15305 PMM2 phosphomannomutase 2 17p12 GAS3 HMSNIA HNPP Sp110 ClinVar:PMP22 Ensembl:ENSG00000109099 Genatlas:PMP22 HGNC:9118 OMIM:601097 Reactome:Q01453 SwissProt:Q01453 PMP22 peripheral myelin protein 22 2q32.2 MLH2 ClinVar:PMS1 Ensembl:ENSG00000064933 Genatlas:PMS1 HGNC:9121 OMIM:600258 SwissProt:P54277 PMS1 PMS1 homolog 1, mismatch repair system component 7p22.1 HNPCC4 H_DJ0042M02.9 MLH4 PMS-2 ClinVar:PMS2 Ensembl:ENSG00000122512 Genatlas:PMS2 HGNC:9122 OMIM:600259 Reactome:P54278 SwissProt:P54278 PMS2 PMS1 homolog 2, mismatch repair system component 15q26.1 POLG1 POLGA ClinVar:POLG Ensembl:ENSG00000140521 Genatlas:POLG HGNC:9179 OMIM:174763 Reactome:P54098 SwissProt:P54098 POLG DNA polymerase gamma, catalytic subunit 17q23.3 HP55 MTPOLB ClinVar:POLG2 Ensembl:ENSG00000256525 Genatlas:POLG2 HGNC:9180 OMIM:604983 Reactome:Q9UHN1 SwissProt:Q9UHN1 POLG2 DNA polymerase gamma 2, accessory subunit 6p21.1 RAD30A XP-V ClinVar:POLH Ensembl:ENSG00000170734 Genatlas:POLH HGNC:9181 OMIM:603968 Reactome:Q9Y253 SwissProt:Q9Y253 POLH DNA polymerase eta 1p34.1 FLJ20277 LGMD2O MGAT1.2 protein O-mannose beta-1,2-N-acetylglucosaminyltransferase ClinVar:POMGNT1 Ensembl:ENSG00000085998 Genatlas:POMGNT1 HGNC:19139 OMIM:606822 Reactome:Q8WZA1 SwissProt:Q8WZA1 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 9q34.13 LGMD2K dolichyl-phosphate-mannose-protein mannosyltransferase ClinVar:POMT1 Ensembl:ENSG00000130714 Genatlas:POMT1 HGNC:9202 OMIM:607423 Reactome:Q9Y6A1 SwissProt:Q9Y6A1 POMT1 protein O-mannosyltransferase 1 14q24.3 Dolichyl-phosphate-mannose--protein mannosyltransferase LGMD2N ClinVar:POMT2 Ensembl:ENSG00000009830 Genatlas:POMT2 HGNC:19743 OMIM:607439 Reactome:Q9UKY4 SwissProt:Q9UKY4 POMT2 protein O-mannosyltransferase 2 7q11.23 CYPOR FLJ26468 NADPH--hemoprotein reductase ClinVar:POR Ensembl:ENSG00000127948 Genatlas:POR HGNC:9208 OMIM:124015 Reactome:P16435 SwissProt:P16435 POR cytochrome p450 oxidoreductase 3p11.2 GHF-1 PIT-1 POU1F1a growth hormone factor 1 pituitary transcript factor 1 ClinVar:POU1F1 Ensembl:ENSG00000064835 Genatlas:POU1F1 HGNC:9210 OMIM:173110 SwissProt:P28069 POU1F1 POU class 1 homeobox 1 Xq21.1 BRN4 DFNX2 OTF9 Octamer-binding transcription factor 9 brain-4 ClinVar:POU3F4 Ensembl:ENSG00000196767 Genatlas:POU3F4 HGNC:9217 OMIM:300039 SwissProt:P49335 POU3F4 POU class 3 homeobox 4 5q32 BRN3C ClinVar:POU4F3 Ensembl:ENSG00000091010 Genatlas:POU4F3 HGNC:9220 OMIM:602460 Reactome:Q15319 SwissProt:Q15319 POU4F3 POU class 4 homeobox 3 7p14.1 RPF-1 Retina-derived POU-domain factor-1 ClinVar:POU6F2 Ensembl:ENSG00000106536 Genatlas:POU6F2 HGNC:21694 OMIM:609062 Reactome:P78424 SwissProt:P78424 POU6F2 POU class 6 homeobox 2 3p25.2 NR1C3 PPARG1 PPARG2 PPARgamma ClinVar:PPARG Ensembl:ENSG00000132170 Genatlas:PPARG HGNC:9236 IUPHAR:595 OMIM:601487 Reactome:P37231 SwissProt:P37231 PPARG peroxisome proliferator activated receptor gamma 1q23.3 PPO ClinVar:PPOX Ensembl:ENSG00000143224 Genatlas:PPOX HGNC:9280 OMIM:600923 Reactome:P50336 SwissProt:P50336 PPOX protoporphyrinogen oxidase 5q32 B55beta PP2A subunit B isoform beta PR52B PR55-BETA ClinVar:PPP2R2B Ensembl:ENSG00000156475 Genatlas:PPP2R2B HGNC:9305 OMIM:604325 Reactome:Q00005 SwissProt:Q00005 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta 1p34.2 CLN1 INCL ceroid-lipofuscinosis, neuronal 1, infantile ClinVar:PPT1 Ensembl:ENSG00000131238 Genatlas:PPT1 HGNC:9325 IUPHAR:3199 OMIM:600722 Reactome:P50897 SwissProt:P50897 PPT1 palmitoyl-protein thioesterase 1 Xp11.23 ClinVar:PQBP1 Ensembl:ENSG00000102103 Genatlas:PQBP1 HGNC:9330 OMIM:300463 Reactome:O60828 SwissProt:O60828 PQBP1 polyglutamine binding protein 1 1q23.1 RCCP1 ClinVar:PRCC Ensembl:ENSG00000143294 Genatlas:PRCC HGNC:9343 OMIM:179755 Reactome:Q92733 SwissProt:Q92733 PRCC proline rich mitotic checkpoint control factor 17q25.1 RP36 ClinVar:PRCD Ensembl:ENSG00000214140 Genatlas:PRCD HGNC:32528 OMIM:610598 SwissProt:Q00LT1 PRCD photoreceptor disc component 10q22.1 HPLH2 P1 PFP Perforin perforin 1 (preforming protein) ClinVar:PRF1 Ensembl:ENSG00000180644 Genatlas:PRF1 HGNC:9360 IUPHAR:3100 OMIM:170280 SwissProt:P14222 PRF1 perforin 1 Beta-mannosidase deficiency Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. Orphanet ICD-10:E77.1 ICD-11:5C56.21 MONDO:0009562 MeSH:D044905 OMIM:248510 UMLS:C4048196 Autosomal recessive Adolescent Adult Childhood Infancy Neonatal Czech Republic AND has_birth_prevalence_average_value : 0.16 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.14 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.13 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 0.12 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=118 Beta-mannosidosis ORPHA:118 ICD-10:E77.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5C56.21 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0009562 E (Exact mapping: the two concepts are equivalent) MeSH:D044905 E (Exact mapping: the two concepts are equivalent) OMIM:248510 E (Exact mapping: the two concepts are equivalent) UMLS:C4048196 E (Exact mapping: the two concepts are equivalent) Boucher-Neuhäuser syndrome A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. Orphanet ICD-10:G11.8 MONDO:0008980 MeSH:C565850 OMIM:215470 UMLS:C1859093 Autosomal recessive Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1180 Ataxia-hypogonadism-choroidal dystrophy syndrome ORPHA:1180 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0008980 E (Exact mapping: the two concepts are equivalent) MeSH:C565850 E (Exact mapping: the two concepts are equivalent) OMIM:215470 E (Exact mapping: the two concepts are equivalent) UMLS:C1859093 E (Exact mapping: the two concepts are equivalent) 1q31.1 FLJ32635 HAPO JCAP Jacobs camptodactyly-arthropathy-pericarditis syndrome MSF SZP articular superficial zone protein bG174L6.2 bG174L6.2 (MSF: megakaryocyte stimulating factor ) camptodactyly, arthropathy, coxa vara, pericarditis syndrome lubricin megakaryocyte stimulating factor ClinVar:PRG4 Ensembl:ENSG00000116690 Genatlas:PRG4 HGNC:9364 OMIM:604283 SwissProt:Q92954 PRG4 proteoglycan 4 7q36.1 AAKG AAKG2 AMPK gamma2 CMH6 H91620p WPWS ClinVar:PRKAG2 Ensembl:ENSG00000106617 Genatlas:PRKAG2 HGNC:9386 IUPHAR:1546 OMIM:602743 Reactome:Q9UGJ0 SwissProt:Q9UGJ0 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 17q24.2 CNC1 Carney complex type 1 ClinVar:PRKAR1A Ensembl:ENSG00000108946 Genatlas:PRKAR1A HGNC:9388 IUPHAR:1472 OMIM:188830 Reactome:P10644 SwissProt:P10644 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha 19q13.42 MGC57564 PKC-gamma PKC? PKCC PKCγ ClinVar:PRKCG Ensembl:ENSG00000126583 Genatlas:PRKCG HGNC:9402 IUPHAR:1484 OMIM:176980 Reactome:P05129 SwissProt:P05129 PRKCG protein kinase C gamma 19p13.2 80K-H AGE-R2 GIIB GIIbeta GluIIbeta PKCSH VASAP-60 advanced glycation end-product receptor 2 glucosidase 2 subunit beta glucosidase II beta subunit hepatocystin ClinVar:PRKCSH Ensembl:ENSG00000130175 Genatlas:PRKCSH HGNC:9411 OMIM:177060 Reactome:P14314 SwissProt:P14314 PRKCSH PRKCSH beta subunit of glucosidase II 20p13 AltPrP CD230 Creutzfeldt-Jakob disease Gerstmann-Strausler-Scheinker syndrome PRP fatal familial insomnia p27-30 ClinVar:PRNP Ensembl:ENSG00000171867 Genatlas:PRNP HGNC:9449 OMIM:176640 Reactome:P04156 SwissProt:P04156 PRNP prion protein (Kanno blood group) 2q14.3 coagulation factor XIV prepro-protein C ClinVar:PROC Ensembl:ENSG00000115718 Genatlas:PROC HGNC:9451 IUPHAR:2396 OMIM:612283 Reactome:P04070 SwissProt:P04070 PROC protein C, inactivator of coagulation factors Va and VIIIa 22q11.21 HSPOX2 PIG6 POX PRODH1 PRODH2 TP53I6 p53 Inducible gene 6 proline oxidase ClinVar:PRODH Ensembl:ENSG00000100033 Genatlas:PRODH HGNC:9453 OMIM:606810 Reactome:O43272 SwissProt:O43272 PRODH proline dehydrogenase 1 3p13 BV8 KAL4 MIT1 PK2 protein Bv8 homolog ClinVar:PROK2 Ensembl:ENSG00000163421 Genatlas:PROK2 HGNC:18455 OMIM:607002 Reactome:Q9HC23 SwissProt:Q9HC23 PROK2 prokineticin 2 20p12.3 GPR73b GPRg2 PKR2 dJ680N4.3 ClinVar:PROKR2 Ensembl:ENSG00000101292 Genatlas:PROKR2 HGNC:15836 IUPHAR:336 OMIM:607123 Reactome:Q8NFJ6 SwissProt:Q8NFJ6 PROKR2 prokineticin receptor 2 5q35.3 ClinVar:PROP1 Ensembl:ENSG00000175325 Genatlas:PROP1 HGNC:9455 OMIM:601538 Reactome:O75360 SwissProt:O75360 PROP1 PROP paired-like homeobox 1 3q11.1 ClinVar:PROS1 Ensembl:ENSG00000184500 Genatlas:PROS1 HGNC:9456 OMIM:176880 Reactome:P07225 SwissProt:P07225 PROS1 protein S 1q21.2 HPRP3 Prp3 SNRNP90 U4/U6 small nuclear ribonucleoprotein Prp3 hPrp3 ClinVar:PRPF3 Ensembl:ENSG00000117360 Genatlas:PRPF3 HGNC:17348 OMIM:607301 Reactome:O43395 SwissProt:O43395 PRPF3 pre-mRNA processing factor 3 19q13.42 NY-BR-99 PRP31 SNRNP61 U4/U6 small nuclear ribonucleoprotein Prp31 hPrp31 ClinVar:PRPF31 Ensembl:ENSG00000105618 Genatlas:PRPF31 HGNC:15446 OMIM:606419 Reactome:Q8WWY3 SwissProt:Q8WWY3 PRPF31 pre-mRNA processing factor 31 17p13.3 PRPC8 Prp8 SNRNP220 hPrp8 ClinVar:PRPF8 Ensembl:ENSG00000174231 Genatlas:PRPF8 HGNC:17340 OMIM:607300 Reactome:Q6P2Q9 SwissProt:Q6P2Q9 PRPF8 pre-mRNA processing factor 8 6p21.1 CACD2 TSPAN22 choroidal dystrophy, central areolar 2 rd2 retinal peripherin tetraspanin-22 ClinVar:PRPH2 Ensembl:ENSG00000112619 Genatlas:PRPH2 HGNC:9942 OMIM:179605 SwissProt:P23942 PRPH2 peripherin 2 Xq22.3 CMTX5 DFNX1 PPRibP PRS I PRS-I ribose-phosphate diphosphokinase 1 ClinVar:PRPS1 Ensembl:ENSG00000147224 Genatlas:PRPS1 HGNC:9462 OMIM:311850 Reactome:P60891 SwissProt:P60891 PRPS1 phosphoribosyl pyrophosphate synthetase 1 7q34 ClinVar:PRSS1 Ensembl:ENSG00000204983 Genatlas:PRSS1 HGNC:9475 IUPHAR:2397 OMIM:276000 Reactome:P07477 SwissProt:P07477 PRSS1 serine protease 1 4q26 BSSP-3 MRT1 brain-specific serine protease 3 mental retardation, autosomal recessive 1 motopsin neurotrypsin ClinVar:PRSS12 Ensembl:ENSG00000164099 Genatlas:PRSS12 HGNC:9477 OMIM:606709 SwissProt:P56730 PRSS12 serine protease 12 19p13.3 ACPA AGP7 C-ANCA MBT P29 PR-3 Wegener granulomatosis autoantigen myeloblastin serine proteinase, neutrophil ClinVar:PRTN3 Ensembl:ENSG00000196415 Genatlas:PRTN3 HGNC:9495 IUPHAR:2401 OMIM:177020 Reactome:P24158 SwissProt:P24158 PRTN3 proteinase 3 19q13.2 KIAA1620 ClinVar:PRX Ensembl:ENSG00000105227 Genatlas:PRX HGNC:13797 OMIM:605725 SwissProt:Q9BXM0 PRX periaxin 10q22.1 precursor of saposins saposin-A saposin-B saposin-C saposin-D variant Gaucher disease and variant metachromatic leukodystrophy ClinVar:PSAP Ensembl:ENSG00000197746 Genatlas:PSAP HGNC:9498 OMIM:176801 Reactome:P07602 SwissProt:P07602 PSAP prosaposin 14q24.2 FAD PS-1 PS1 PSNL1 S182 familial Alzheimer Disease ClinVar:PSEN1 Ensembl:ENSG00000080815 Genatlas:PSEN1 HGNC:9508 IUPHAR:2402 OMIM:104311 Reactome:P49768 SwissProt:P49768 PSEN1 presenilin 1 1q42.13 AD3L Alzheimer disease 3-like E5-1 PS-2 PS2 STM2 ClinVar:PSEN2 Ensembl:ENSG00000143801 Genatlas:PSEN2 HGNC:9509 IUPHAR:2403 OMIM:600759 Reactome:P49810 SwissProt:P49810 PSEN2 presenilin 2 7p11.2 ClinVar:PSPH Ensembl:ENSG00000146733 Genatlas:PSPH HGNC:9577 OMIM:172480 Reactome:P78330 SwissProt:P78330 PSPH phosphoserine phosphatase 15q24.3 CD2 antigen-binding protein 1 CD2 cytoplasmic tail-binding protein CD2BP1 CD2BP1L CD2BP1S H-PIP PAPAS PEST phosphatase-interacting protein 1 PSTPIP ClinVar:PSTPIP1 Ensembl:ENSG00000140368 Genatlas:PSTPIP1 HGNC:9580 OMIM:606347 Reactome:O43586 SwissProt:O43586 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 9q22.32 BCNS SLC65B1 ClinVar:PTCH1 Ensembl:ENSG00000185920 Genatlas:PTCH1 HGNC:9585 OMIM:601309 Reactome:Q13635 SwissProt:Q13635 PTCH1 patched 1 1p34.1 SLC65B2 ClinVar:PTCH2 Ensembl:ENSG00000117425 Genatlas:PTCH2 HGNC:9586 OMIM:603673 Reactome:Q9Y6C5 SwissProt:Q9Y6C5 PTCH2 patched 2 10q23.31 MMAC1 PTEN1 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN TEP1 mutated in multiple advanced cancers 1 ClinVar:PTEN Ensembl:ENSG00000171862 Genatlas:PTEN HGNC:9588 IUPHAR:2497 OMIM:601728 Reactome:P60484 SwissProt:P60484 PTEN phosphatase and tensin homolog 10p12.2 PTF1-p48 bHLHa29 p48 ClinVar:PTF1A Ensembl:ENSG00000168267 Genatlas:PTF1A HGNC:23734 OMIM:607194 Reactome:Q7RTS3 SwissProt:Q7RTS3 PTF1A pancreas associated transcription factor 1a 11p15.3 PTH1 parathormone parathyrin parathyroid hormone 1 prepro-PTH preproparathyroid hormone ClinVar:PTH Ensembl:ENSG00000152266 Genatlas:PTH HGNC:9606 OMIM:168450 Reactome:P01270 SwissProt:P01270 PTH parathyroid hormone 3p21.31 ClinVar:PTH1R Ensembl:ENSG00000160801 Genatlas:PTH1R HGNC:9608 IUPHAR:331 OMIM:168468 Reactome:Q03431 SwissProt:Q03431 PTH1R parathyroid hormone 1 receptor 12q24.13 BPTP3 PTP2C SH-PTP2 SH2 domain-containing protein tyrosine phosphatase 2 SHP-2 SHP2 ClinVar:PTPN11 Ensembl:ENSG00000179295 Genatlas:PTPN11 HGNC:9644 IUPHAR:3203 OMIM:176876 Reactome:Q06124 SwissProt:Q06124 PTPN11 protein tyrosine phosphatase non-receptor type 11 1q31.3-q32.1 B220 CD45R GP180 LCA LY5 T200 glycoprotein 180 leukocyte-common antigen ClinVar:PTPRC Ensembl:ENSG00000081237 Genatlas:PTPRC HGNC:9666 IUPHAR:1852 OMIM:151460 Reactome:P08575 SwissProt:P08575 PTPRC protein tyrosine phosphatase receptor type C 11q23.1 PTPS ClinVar:PTS Ensembl:ENSG00000150787 Genatlas:PTS HGNC:9689 OMIM:612719 Reactome:Q03393 SwissProt:Q03393 PTS 6-pyruvoyltetrahydropterin synthase 12q24.33 MLASA1 mitochondrial myopathy and sideroblastic anemia 1 tRNA pseudouridine(38-40) synthase ClinVar:PUS1 Ensembl:ENSG00000177192 Genatlas:PUS1 HGNC:15508 OMIM:608109 Reactome:Q9Y606 SwissProt:Q9Y606 PUS1 pseudouridine synthase 1 11q23.3 CD111 CLPED1 HIgR Nectin-1 OFC7 PRR PRR1 PVRR1 SK-12 nectin ClinVar:NECTIN1 Ensembl:ENSG00000110400 Genatlas:PVRL1 HGNC:9706 OMIM:600644 Reactome:Q15223 SwissProt:Q15223 NECTIN1 nectin cell adhesion molecule 1 8q21.13 PAF-1 PMP35 RNF72 ZWS3 Zellweger syndrome peroxin 2 ClinVar: ClinVar:PEX2 Ensembl:ENSG00000164751 Genatlas:PXMP3 HGNC:9717 OMIM:170993 Reactome:P28328 SwissProt:P28328 PEX2 peroxisomal biogenesis factor 2 14q22.1 GSD6 Hers disease glycogen phosphorylase, liver form glycogen storage disease type VI ClinVar:PYGL Ensembl:ENSG00000100504 Genatlas:PYGL HGNC:9725 OMIM:613741 Reactome:P06737 SwissProt:P06737 PYGL glycogen phosphorylase L 11q13.1 GSD5 McArdle syndrome glycogen phosphorylase, muscle form glycogen storage disease type V myophosphorylase ClinVar:PYGM Ensembl:ENSG00000068976 Genatlas:PYGM HGNC:9726 OMIM:608455 Reactome:P11217 SwissProt:P11217 PYGM glycogen phosphorylase, muscle associated 4p15.32 6,7-dihydropteridine reductase DHPR PKU2 SDR33C1 short chain dehydrogenase/reductase family 33C, member 1 ClinVar:QDPR Ensembl:ENSG00000151552 Genatlas:QDPR HGNC:9752 OMIM:612676 Reactome:P09417 SwissProt:P09417 QDPR quinoid dihydropteridine reductase 15q21.3 GS2 HsT18676 RAB27 RAM ClinVar:RAB27A Ensembl:ENSG00000069974 Genatlas:RAB27A HGNC:9766 IUPHAR:2916 OMIM:603868 Reactome:P51159 SwissProt:P51159 RAB27A RAB27A, member RAS oncogene family 2q21.3 KIAA0066 RAB3GAP RAB3GAP130 WARBM1 ClinVar:RAB3GAP1 Ensembl:ENSG00000115839 Genatlas:RAB3GAP1 HGNC:17063 OMIM:602536 Reactome:Q15042 SwissProt:Q15042 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 Autosomal dominant spastic ataxia type 7 SPAX7 Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. Orphanet ICD-10:G11.4 MONDO:0007165 MeSH:C566247 OMIM:108650 UMLS:C1862441 Autosomal dominant Adolescent Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1182 Spastic ataxia with congenital miosis ORPHA:1182 ICD-10:G11.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0007165 E (Exact mapping: the two concepts are equivalent) MeSH:C566247 E (Exact mapping: the two concepts are equivalent) OMIM:108650 E (Exact mapping: the two concepts are equivalent) UMLS:C1862441 E (Exact mapping: the two concepts are equivalent) 1q41 DKFZP434D245 KIAA0839 RAB3-GAP150 SPG69 ClinVar:RAB3GAP2 Ensembl:ENSG00000118873 Genatlas:RAB3GAP2 HGNC:17168 OMIM:609275 Reactome:Q9H2M9 SwissProt:Q9H2M9 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 3q21.3 ClinVar:RAB7A Ensembl:ENSG00000075785 Genatlas:RAB7A HGNC:9788 OMIM:602298 Reactome:P51149 SwissProt:P51149 RAB7A RAB7A, member RAS oncogene family 15q15.1 BRCA1/BRCA2-containing complex, subunit 5 BRCC5 FANCR HsRad51 HsT16930 ClinVar:RAD51 Ensembl:ENSG00000051180 Genatlas:RAD51 HGNC:9817 OMIM:179617 Reactome:Q06609 SwissProt:Q06609 RAD51 RAD51 recombinase 11p12 MGC43321 RING finger protein 74 RNF74 V(D)J recombination-activating protein 1 recombination activating protein 1 ClinVar:RAG1 Ensembl:ENSG00000166349 Genatlas:RAG1 HGNC:9831 OMIM:179615 Reactome:P15918 SwissProt:P15918 RAG1 recombination activating 1 11p12 ClinVar:RAG2 Ensembl:ENSG00000175097 Genatlas:RAG2 HGNC:9832 OMIM:179616 Reactome:P55895 SwissProt:P55895 RAG2 recombination activating 2 17p11.2 DKFZP434A139 KIAA1820 MGC12824 SMS ClinVar:RAI1 Ensembl:ENSG00000108557 Genatlas:RAI1 HGNC:9834 OMIM:607642 Reactome:Q7Z5J4 SwissProt:Q7Z5J4 RAI1 retinoic acid induced 1 11p11.2 CMS1D CMS1E RNF205 rapsyn ClinVar:RAPSN Ensembl:ENSG00000165917 Genatlas:RAPSN HGNC:9863 OMIM:601592 SwissProt:Q13702 RAPSN receptor associated protein of the synapse 17q21.2 NR1B1 RAR RAR-alpha RARalpha ClinVar:RARA Ensembl:ENSG00000131759 Genatlas:RARA HGNC:9864 IUPHAR:590 OMIM:180240 Reactome:P10276 SwissProt:P10276 RARA retinoic acid receptor alpha 5q14.3 CM-AVM GAP Ras GTPase-activating protein 1 capillary malformation-arteriovenous malformation p120 p120 RAS GTPase activating protein p120GAP p120RASGAP ClinVar:RASA1 Ensembl:ENSG00000145715 Genatlas:RASA1 HGNC:9871 OMIM:139150 Reactome:P20936 SwissProt:P20936 RASA1 RAS p21 protein activator 1 13q14.2 PPP1R130 RB prepro-retinoblastoma-associated protein protein phosphatase 1, regulatory subunit 130 ClinVar:RB1 Ensembl:ENSG00000139687 Genatlas:RB1 HGNC:9884 OMIM:614041 Reactome:P06400 SwissProt:P06400 RB1 RB transcriptional corepressor 1 1q32.3 LCA12 ClinVar:RD3 Ensembl:ENSG00000198570 Genatlas:RD3 HGNC:19689 OMIM:180040 Reactome:Q7Z3Z2 SwissProt:Q7Z3Z2 RD3 RD3 regulator of GUCY2D 14q24.1 FLJ30273 LCA13 RP53 SDR7C2 short chain dehydrogenase/reductase family 7C, member 2 ClinVar:RDH12 Ensembl:ENSG00000139988 Genatlas:RDH12 HGNC:19977 OMIM:608830 Reactome:Q96NR8 SwissProt:Q96NR8 RDH12 retinol dehydrogenase 12 12q13.2 HSD17B9 SDR9C5 short chain dehydrogenase/reductase family 9C, member 5 ClinVar:RDH5 Ensembl:ENSG00000135437 Genatlas:RDH5 HGNC:9940 OMIM:601617 Reactome:Q92781 SwissProt:Q92781 RDH5 retinol dehydrogenase 5 8q24.3 RecQ4 ClinVar:RECQL4 Ensembl:ENSG00000160957 Genatlas:RECQL4 HGNC:9949 OMIM:603780 SwissProt:O94761 RECQL4 RecQ like helicase 4 2p11.2 FLJ13110 SPG31 Yip2a receptor expression enhancing protein 1 ClinVar:REEP1 Ensembl:ENSG00000068615 Genatlas:REEP1 HGNC:25786 OMIM:609139 Reactome:Q9H902 SwissProt:Q9H902 REEP1 receptor accessory protein 1 7q22.1 PRO1598 RL ClinVar:RELN Ensembl:ENSG00000189056 Genatlas:RELN HGNC:9957 OMIM:600514 Reactome:P78509 SwissProt:P78509 RELN reelin 10q11.21 CDHF12 CDHR16 PTC RET receptor tyrosine kinase RET51 cadherin-related family member 16 rearranged during transfection ClinVar:RET Ensembl:ENSG00000165731 Genatlas:RET HGNC:9967 IUPHAR:2185 OMIM:164761 Reactome:P07949 SwissProt:P07949 RET ret proto-oncogene 7q11.23 A1 RFC40 activator 1 ClinVar:RFC2 Ensembl:ENSG00000049541 Genatlas:RFC2 HGNC:9970 OMIM:600404 Reactome:P35250 SwissProt:P35250 RFC2 replication factor C subunit 2 1q21.3 ClinVar:RFX5 Ensembl:ENSG00000143390 Genatlas:RFX5 HGNC:9986 OMIM:601863 Reactome:P48382 SwissProt:P48382 RFX5 regulatory factor X5 19p13.11 ANKRA1 BLS DNA-binding protein RFXANK F14150_1 MGC138628 RFX-B RFX-Bdelta4 ankyrin repeat-containing regulatory factor X-associated protein regulatory factor X subunit B ClinVar:RFXANK Ensembl:ENSG00000064490 Genatlas:RFXANK HGNC:9987 OMIM:603200 SwissProt:O14593 RFXANK regulatory factor X associated ankyrin containing protein 13q13.3 ClinVar:RFXAP Ensembl:ENSG00000133111 Genatlas:RFXAP HGNC:9988 OMIM:601861 SwissProt:O00287 RFXAP regulatory factor X associated protein 10q23.1 RGR-opsin RP44 ClinVar:RGR Ensembl:ENSG00000148604 Genatlas:RGR HGNC:9990 OMIM:600342 Reactome:P47804 SwissProt:P47804 RGR retinal G protein coupled receptor 17q24.1 MGC111763 MGC26458 PERRS RGS9L regulator of G protein signalling 9 regulator of G protein signalling 9L regulator of G-protein signaling 9L ClinVar:RGS9 Ensembl:ENSG00000108370 Genatlas:RGS9 HGNC:10004 IUPHAR:2817 OMIM:604067 Reactome:O75916 SwissProt:O75916 RGS9 regulator of G protein signaling 9 Ataxo-opso-myoclonus syndrome Dancing eye syndrome Dancing eye-dancing feet syndrome Kinsbourne syndrome OMA syndrome OMS Opsoclonus-myoclonus-ataxia syndrome POMA syndrome Paraneoplastic opsoclonus-myoclonus Paraneoplastic opsoclonus-myoclonus-ataxia syndrome Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders. Orphanet ICD-10:G25.3 ICD-11:9C85.02 MONDO:0015247 MeSH:D053578 MedDRA:10053854 UMLS:C0393626 Not applicable Childhood Infancy Europe AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1183 Opsoclonus-myoclonus syndrome ORPHA:1183 ICD-10:G25.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C85.02 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015247 E (Exact mapping: the two concepts are equivalent) MeSH:D053578 E (Exact mapping: the two concepts are equivalent) MedDRA:10053854 E (Exact mapping: the two concepts are equivalent) UMLS:C0393626 E (Exact mapping: the two concepts are equivalent) 19q13.11 FLJ45744 PERRS R9AP RGS9 ClinVar:RGS9BP Ensembl:ENSG00000186326 Genatlas:RGS9BP HGNC:30304 OMIM:607814 Reactome:Q6ZS82 SwissProt:Q6ZS82 RGS9BP regulator of G protein signaling 9 binding protein 6p12.3 Ammonium transporter Rh type A CD241 RH50A SLC42A1 ClinVar:RHAG Ensembl:ENSG00000112077 Genatlas:RHAG HGNC:10006 IUPHAR:1198 OMIM:180297 Reactome:Q02094 SwissProt:Q02094 RHAG Rh associated glycoprotein 1p36.11 CD240CE SLC42A4 ClinVar:RHCE Ensembl:ENSG00000188672 Genatlas:RHCE HGNC:10008 OMIM:111700 SwissProt:P18577 RHCE Rh blood group CcEe antigens 3q22.1 CSNBAD1 OPN2 opsin 2, rod pigment ClinVar:RHO Ensembl:ENSG00000163914 Genatlas:RHO HGNC:10012 IUPHAR:2963 OMIM:180380 Reactome:P08100 SwissProt:P08100 RHO rhodopsin 6q13 KIAA0340 RIM RIM1 Rab3-interacting molecule ClinVar:RIMS1 Ensembl:ENSG00000079841 Genatlas:RIMS1 HGNC:17282 OMIM:606629 Reactome:Q86UR5 SwissProt:Q86UR5 RIMS1 regulating synaptic membrane exocytosis 1 15q26.1 CRALBP ClinVar:RLBP1 Ensembl:ENSG00000140522 Genatlas:RLBP1 HGNC:10024 IUPHAR:2545 OMIM:180090 Reactome:P12271 SwissProt:P12271 RLBP1 retinaldehyde binding protein 1 19p13.13 AGS4 RNASEHI RNHIA RNHL ClinVar:RNASEH2A Ensembl:ENSG00000104889 Genatlas:RNASEH2A HGNC:18518 OMIM:606034 SwissProt:O75792 RNASEH2A ribonuclease H2 subunit A 13q14.3 FLJ11712 ClinVar:RNASEH2B Ensembl:ENSG00000136104 Genatlas:RNASEH2B HGNC:25671 OMIM:610326 SwissProt:Q5TBB1 RNASEH2B ribonuclease H2 subunit B 11q13.1 AGS3 AYP1 Aicardi-Goutieres syndrome 3 ClinVar:RNASEH2C Ensembl:ENSG00000172922 Genatlas:RNASEH2C HGNC:24116 OMIM:610330 SwissProt:Q8TDP1 RNASEH2C ribonuclease H2 subunit C 1q25.3 ClinVar:RNASEL Ensembl:ENSG00000135828 Genatlas:RNASEL HGNC:10050 OMIM:180435 Reactome:Q05823 SwissProt:Q05823 RNASEL ribonuclease L 8q24.13 HRCA1 RCA1 TRC8 translocation in renal carcinoma, chromosome 8 ClinVar:RNF139 Ensembl:ENSG00000170881 Genatlas:RNF139 HGNC:17023 OMIM:603046 Reactome:Q8WU17 SwissProt:Q8WU17 RNF139 ring finger protein 139 11q24.2 FLJ21044 HGPS RBIG1 ClinVar:ROBO3 Ensembl:ENSG00000154134 Genatlas:ROBO3 HGNC:13433 OMIM:608630 Reactome:Q96MS0 SwissProt:Q96MS0 ROBO3 roundabout guidance receptor 3 11q12.3 ROM TSPAN23 ClinVar:ROM1 Ensembl:ENSG00000149489 Genatlas:ROM1 HGNC:10254 OMIM:180721 SwissProt:Q03395 ROM1 retinal outer segment membrane protein 1 9q22.31 ClinVar:ROR2 Ensembl:ENSG00000169071 Genatlas:ROR2 HGNC:10257 IUPHAR:1846 OMIM:602337 Reactome:Q01974 SwissProt:Q01974 ROR2 receptor tyrosine kinase like orphan receptor 2 8q11.23-q12.1 DCDC4A ORP1 doublecortin domain containing 4A oxygen-regulated protein 1 ClinVar:RP1 Ensembl:ENSG00000104237 Genatlas:RP1 HGNC:10263 OMIM:603937 SwissProt:P56715 RP1 RP1 axonemal microtubule associated Xp11.3 NM23-H10 NME10 TBCCD2 ClinVar:RP2 Ensembl:ENSG00000102218 Genatlas:RP2 HGNC:10274 OMIM:300757 Reactome:O75695 SwissProt:O75695 RP2 RP2 activator of ARL3 GTPase 7p14.3 PAP-1 Pim-1 kinase associated protein ClinVar:RP9 Ensembl:ENSG00000164610 Genatlas:RP9 HGNC:10288 OMIM:607331 Reactome:Q8TA86 SwissProt:Q8TA86 RP9 RP9 pre-mRNA splicing factor 1p31.3 BCO family, member 3 BCO3 LCA2 all-trans-retinyl-palmitate hydrolase rd12 retinol isomerase ClinVar:RPE65 Ensembl:ENSG00000116745 Genatlas:RPE65 HGNC:10294 OMIM:180069 Reactome:Q16518 SwissProt:Q16518 RPE65 retinoid isomerohydrolase RPE65 Xp11.4 CORDX1 ClinVar:RPGR Ensembl:ENSG00000156313 Genatlas:RPGR HGNC:10295 OMIM:312610 Reactome:Q92834 SwissProt:Q92834 RPGR retinitis pigmentosa GTPase regulator 14q11.2 CORD13 LCA6 RGI1 ClinVar:RPGRIP1 Ensembl:ENSG00000092200 Genatlas:RPGRIP1 HGNC:13436 OMIM:605446 Reactome:Q96KN7 SwissProt:Q96KN7 RPGRIP1 RPGR interacting protein 1 Xq28 DXS648 DXS648E FLJ23544 L10 NOV QM uL16 ClinVar:RPL10 Ensembl:ENSG00000147403 Genatlas:RPL10 HGNC:10298 OMIM:312173 Reactome:P27635 SwissProt:P27635 RPL10 ribosomal protein L10 Fenton-Wilkinson-Toselano syndrome A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. Orphanet ICD-10:Q87.8 MONDO:0015248 UMLS:C4751230 Unknown Childhood Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1184 Historical entity Ataxia-photosensitivity-short stature syndrome ORPHA:1184 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015248 E (Exact mapping: the two concepts are equivalent) UMLS:C4751230 E (Exact mapping: the two concepts are equivalent) 19q13.2 DBA Diamond-Blackfan anemia S19 eS19 ClinVar:RPS19 Ensembl:ENSG00000105372 Genatlas:RPS19 HGNC:10402 OMIM:603474 Reactome:P39019 SwissProt:P39019 RPS19 ribosomal protein S19 10q22.3 S24 eS24 ClinVar:RPS24 Ensembl:ENSG00000138326 Genatlas:RPS24 HGNC:10411 OMIM:602412 Reactome:P62847 SwissProt:P62847 RPS24 ribosomal protein S24 Xp22.12 HU-3 RSK RSK2 ClinVar:RPS6KA3 Ensembl:ENSG00000177189 Genatlas:RPS6KA3 HGNC:10432 IUPHAR:1528 OMIM:300075 Reactome:P51812 SwissProt:P51812 RPS6KA3 ribosomal protein S6 kinase A3 Xp22.13 XLRS1 ClinVar:RS1 Ensembl:ENSG00000102104 Genatlas:RS1 HGNC:10457 OMIM:300839 SwissProt:O15537 RS1 retinoschisin 1 1p34.3 FLJ40906 RSPONDIN ClinVar:RSPO1 Ensembl:ENSG00000169218 Genatlas:RSPO1 HGNC:21679 OMIM:609595 Reactome:Q2MKA7 SwissProt:Q2MKA7 RSPO1 R-spondin 1 20p13 dJ824F16.3 ClinVar:RSPO4 Ensembl:ENSG00000101282 Genatlas:RSPO4 HGNC:16175 OMIM:610573 Reactome:Q2I0M5 SwissProt:Q2I0M5 RSPO4 R-spondin 4 21q22.12 AMLCR1 PEBP2A2 aml1 oncogene ClinVar:RUNX1 Ensembl:ENSG00000159216 Genatlas:RUNX1 HGNC:10471 OMIM:151385 Reactome:Q01196 SwissProt:Q01196 RUNX1 RUNX family transcription factor 1 6p21.1 AML3 PEBP2A1 PEBP2aA1 ClinVar:RUNX2 Ensembl:ENSG00000124813 Genatlas:RUNX2 HGNC:10472 OMIM:600211 Reactome:Q13950 SwissProt:Q13950 RUNX2 RUNX family transcription factor 2 19q13.2 PPP1R137 RYR protein phosphatase 1, regulatory subunit 137 ClinVar:RYR1 Ensembl:ENSG00000196218 Genatlas:RYR1 HGNC:10483 IUPHAR:747 OMIM:180901 Reactome:P21817 SwissProt:P21817 RYR1 ryanodine receptor 1 1q43 ARVC2 VTSIP ClinVar:RYR2 Ensembl:ENSG00000198626 Genatlas:RYR2 HGNC:10484 IUPHAR:748 OMIM:180902 Reactome:Q92736 SwissProt:Q92736 RYR2 ryanodine receptor 2 13q12.12 ARSACS DKFZp686B15167 DNAJC29 KIAA0730 PPP1R138 SPAX6 protein phosphatase 1, regulatory subunit 138 ClinVar:SACS Ensembl:ENSG00000151835 Genatlas:SACS HGNC:10519 OMIM:604490 SwissProt:Q9NZJ4 SACS sacsin molecular chaperone 2q37.1 ARRESTIN RP47 arrestin 1 rod arrestin ClinVar:SAG Ensembl:ENSG00000130561 Genatlas:SAG HGNC:10521 OMIM:181031 Reactome:P10523 SwissProt:P10523 SAG S-antigen visual arrestin 16q12.1 Hsal1 ZNF794 ClinVar:SALL1 Ensembl:ENSG00000103449 Genatlas:SALL1 HGNC:10524 OMIM:602218 Reactome:Q9NSC2 SwissProt:Q9NSC2 SALL1 spalt like transcription factor 1 20q13.2 ZNF797 dJ1112F19.1 ClinVar:SALL4 Ensembl:ENSG00000101115 Genatlas:SALL4 HGNC:15924 OMIM:607343 Reactome:Q9UJQ4 SwissProt:Q9UJQ4 SALL4 spalt like transcription factor 4 7q21.2 FLJ20073 KIAA2004 ClinVar:SAMD9 Ensembl:ENSG00000205413 Genatlas:SAMD9 HGNC:1348 OMIM:610456 SwissProt:Q5K651 SAMD9 sterile alpha motif domain containing 9 5q31.1 ClinVar:SAR1B Ensembl:ENSG00000152700 Genatlas:SAR1B HGNC:10535 OMIM:607690 Reactome:Q9Y6B6 SwissProt:Q9Y6B6 SAR1B secretion associated Ras related GTPase 1B 9q34.2 SDH ClinVar:SARDH Ensembl:ENSG00000123453 Genatlas:SARDH HGNC:10536 OMIM:604455 Reactome:Q9UL12 SwissProt:Q9UL12 SARDH sarcosine dehydrogenase 7q11.21 CGI-97 FLJ10917 SDO1 SDS SWDS ClinVar:SBDS Ensembl:ENSG00000126524 Genatlas:SBDS HGNC:19440 OMIM:607444 SwissProt:Q9Y3A5 SBDS SBDS ribosome maturation factor 11p15.4 DENND7B KIAA1766 MTMR13 myotubularin related 13 ClinVar:SBF2 Ensembl:ENSG00000133812 Genatlas:SBF2 HGNC:2135 OMIM:607697 Reactome:Q86WG5 SwissProt:Q86WG5 SBF2 SET binding factor 2 11q23.3-q24.1 delta(7)-sterol 5(6)-desaturase lathosterol oxidase ClinVar:SC5DL Ensembl:ENSG00000109929 Genatlas:SC5DL HGNC:10547 IUPHAR:3296 OMIM:602286 Reactome:O75845 SwissProt:O75845 SC5D sterol-C5-desaturase 2q24.3 GEFSP2 HBSCI NAC1 Nav1.1 SMEI ClinVar:SCN1A Ensembl:ENSG00000144285 Genatlas:SCN1A HGNC:10585 IUPHAR:578 OMIM:182389 Reactome:P35498 SwissProt:P35498 SCN1A sodium voltage-gated channel alpha subunit 1 19q13.11 ClinVar:SCN1B Ensembl:ENSG00000105711 Genatlas:SCN1B HGNC:10586 OMIM:600235 Reactome:Q07699 SwissProt:Q07699 SCN1B sodium voltage-gated channel beta subunit 1 A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:G11.8 MONDO:0010062 OMIM:271270 UMLS:C0796166 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1185 Historical entity Spinocerebellar ataxia-dysmorphism syndrome ORPHA:1185 ICD-10:G11.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0010062 E (Exact mapping: the two concepts are equivalent) OMIM:271270 E (Exact mapping: the two concepts are equivalent) UMLS:C0796166 E (Exact mapping: the two concepts are equivalent) 2q24.3 HBSCI HBSCII Nav1.2 ClinVar:SCN2A Ensembl:ENSG00000136531 Genatlas:SCN2A HGNC:10588 IUPHAR:579 OMIM:182390 Reactome:Q99250 SwissProt:Q99250 SCN2A sodium voltage-gated channel alpha subunit 2 17q23.3 HYPP Nav1.4 SkM1 ClinVar:SCN4A Ensembl:ENSG00000007314 Genatlas:SCN4A HGNC:10591 IUPHAR:581 OMIM:603967 Reactome:P35499 SwissProt:P35499 SCN4A sodium voltage-gated channel alpha subunit 4 3p22.2 CDCD2 CMPD2 HB1 HB2 HBBD HH1 ICCD IVF LQT3 Nav1.5 PFHB1 SSS1 long QT syndrome 3 ClinVar:SCN5A Ensembl:ENSG00000183873 Genatlas:SCN5A HGNC:10593 IUPHAR:582 OMIM:600163 Reactome:Q14524 SwissProt:Q14524 SCN5A sodium voltage-gated channel alpha subunit 5 2q24.3 ETHA NE-NA NENA Nav1.7 PN1 ClinVar:SCN9A Ensembl:ENSG00000169432 Genatlas:SCN9A HGNC:10597 IUPHAR:584 OMIM:603415 Reactome:Q15858 SwissProt:Q15858 SCN9A sodium voltage-gated channel alpha subunit 9 12p13.31 ENaCalpha amiloride-sensitive sodium channel subunit alpha ClinVar:SCNN1A Ensembl:ENSG00000111319 Genatlas:SCNN1A HGNC:10599 IUPHAR:738 OMIM:600228 Reactome:P37088 SwissProt:P37088 SCNN1A sodium channel epithelial 1 subunit alpha 16p12.2 ENaCbeta Liddle syndrome amiloride-sensitive sodium channel subunit beta ClinVar:SCNN1B Ensembl:ENSG00000168447 Genatlas:SCNN1B HGNC:10600 IUPHAR:739 OMIM:600760 Reactome:P51168 SwissProt:P51168 SCNN1B sodium channel epithelial 1 subunit beta 16p12.2 ENaCgamma SCNEG amiloride-sensitive sodium channel subunit gamma ClinVar:SCNN1G Ensembl:ENSG00000166828 Genatlas:SCNN1G HGNC:10602 IUPHAR:741 OMIM:600761 Reactome:P51170 SwissProt:P51170 SCNN1G sodium channel epithelial 1 subunit gamma 17p13.1 ClinVar:SCO1 Ensembl:ENSG00000133028 Genatlas:SCO1 HGNC:10603 OMIM:603644 Reactome:O75880 SwissProt:O75880 SCO1 synthesis of cytochrome C oxidase 1 22q13.33 SCO1L ClinVar:SCO2 Ensembl:ENSG00000284194 Genatlas:SCO2 HGNC:10604 OMIM:604272 Reactome:O43819 SwissProt:O43819 SCO2 synthesis of cytochrome C oxidase 2 5p15.33 FP SDHF flavoprotein subunit of complex II succinate dehydrogenase [ubiquinone] flavoprotein subunit ClinVar:SDHA Ensembl:ENSG00000073578 Genatlas:SDHA HGNC:10680 OMIM:600857 Reactome:P31040 SwissProt:P31040 SDHA succinate dehydrogenase complex flavoprotein subunit A 1p36.13 iron-sulfur subunit of complex II succinate dehydrogenase [ubiquinone] iron-sulfur subunit ClinVar:SDHB Ensembl:ENSG00000117118 Genatlas:SDHB HGNC:10681 OMIM:185470 Reactome:P21912 SwissProt:P21912 SDHB succinate dehydrogenase complex iron sulfur subunit B 1q23.3 CYB560 cybL large subunit of cytochrome b succinate dehydrgenase cytochrome b succinate dehydrogenase cytochrome b560 subunit ClinVar:SDHC Ensembl:ENSG00000143252 Genatlas:SDHC HGNC:10682 OMIM:602413 Reactome:Q99643 SwissProt:Q99643 SDHC succinate dehydrogenase complex subunit C 11q23.1 cybS small subunit of cytochrome b ClinVar:SDHD Ensembl:ENSG00000204370 Genatlas:SDHD HGNC:10683 OMIM:602690 Reactome:O14521 SwissProt:O14521 SDHD succinate dehydrogenase complex subunit D 14q21.1 ClinVar:SEC23A Ensembl:ENSG00000100934 Genatlas:SEC23A HGNC:10701 OMIM:610511 Reactome:Q15436 SwissProt:Q15436 SEC23A SEC23 homolog A, COPII coat complex component 6q21 DNAJC23 ERdj2 PRO2507 SEC63L ClinVar:SEC63 Ensembl:ENSG00000025796 Genatlas:SEC63 HGNC:21082 OMIM:608648 Reactome:Q9UGP8 SwissProt:Q9UGP8 SEC63 SEC63 homolog, protein translocation regulator 7q21.11 KIAA0331 M-SemaK M-sema H coll-5 ClinVar:SEMA3E Ensembl:ENSG00000170381 Genatlas:SEMA3E HGNC:10727 OMIM:608166 Reactome:O15041 SwissProt:O15041 SEMA3E semaphorin 3E 1p36.11 RSS SELN ClinVar:SEPN1 Ensembl:ENSG00000162430 Genatlas:SEPN1 HGNC:15999 OMIM:606210 SwissProt:Q9NZV5 SELENON selenoprotein N IOSCA Ohaha syndrome Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. Orphanet ICD-10:G11.1 ICD-11:LD90.Y MONDO:0010060 MeSH:C535523 OMIM:271245 UMLS:C1849096 Autosomal recessive Infancy Worldwide AND has_cases/families_value : 29.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1186 Infantile-onset spinocerebellar ataxia ORPHA:1186 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010060 E (Exact mapping: the two concepts are equivalent) MeSH:C535523 E (Exact mapping: the two concepts are equivalent) OMIM:271245 E (Exact mapping: the two concepts are equivalent) UMLS:C1849096 E (Exact mapping: the two concepts are equivalent) 14q32.13 A1A A1AT AAT PI1 alpha-1 antitrypsin alpha-1 proteinase inhibitor alpha-1-antitrypsin alpha1AT anti-elastase protease inhibitor 1 protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin ClinVar:SERPINA1 Ensembl:ENSG00000197249 Genatlas:SERPINA1 HGNC:8941 OMIM:107400 Reactome:P01009 SwissProt:P01009 SERPINA1 serpin family A member 1 1q25.1 ATIII MGC22579 antithrombin (aa 375-432) antithrombin III coding sequence signal peptide antithrombin part 1 signal peptide antithrombin part 1 ClinVar:SERPINC1 Ensembl:ENSG00000117601 Genatlas:SERPINC1 HGNC:775 IUPHAR:2632 OMIM:107300 Reactome:P01008 SwissProt:P01008 SERPINC1 serpin family C member 1 7q22.1 PAI plasminogen activator inhibitor, type I ClinVar:SERPINE1 Ensembl:ENSG00000106366 Genatlas:SERPINE1 HGNC:8583 OMIM:173360 Reactome:P05121 SwissProt:P05121 SERPINE1 serpin family E member 1 11q12.1 C1-INH C1-inhibitor C1IN C1INH HAE1 HAE2 angioedema, hereditary plasma protease C1 inhibitor ClinVar:SERPING1 Ensembl:ENSG00000149131 Genatlas:SERPING1 HGNC:1228 OMIM:606860 Reactome:P05155 SwissProt:P05155 SERPING1 serpin family G member 1 3q26.1 neuroserpin ClinVar:SERPINI1 Ensembl:ENSG00000163536 Genatlas:SERPINI1 HGNC:8943 OMIM:602445 SwissProt:Q99574 SERPINI1 serpin family I member 1 9q34.13 AOA2 KIAA0625 STEX Sen1 ClinVar:SETX Ensembl:ENSG00000107290 Genatlas:SETX HGNC:445 OMIM:608465 Reactome:Q7Z333 SwissProt:Q7Z333 SETX senataxin 10q22.3 COLEC4 SP-A SP-A1 surfactant, pulmonary-associated protein A1A ClinVar:SFTPA1 Ensembl:ENSG00000122852 Genatlas:SFTPA1 HGNC:10798 OMIM:178630 Reactome:Q8IWL2 SwissProt:Q8IWL2 SFTPA1 surfactant protein A1 2p11.2 SP-B ClinVar:SFTPB Ensembl:ENSG00000168878 Genatlas:SFTPB HGNC:10801 OMIM:178640 Reactome:P07988 SwissProt:P07988 SFTPB surfactant protein B 8p21.3 BRICD6 BRICHOS domain containing 6 PSP-C SMDP2 SP-C ClinVar:SFTPC Ensembl:ENSG00000168484 Genatlas:SFTPC HGNC:10802 OMIM:178620 Reactome:P11686 SwissProt:P11686 SFTPC surfactant protein C 17q21.33 50kD DAG A2 DMDA2 LGMD2D SCARMD1 adhalin limb girdle muscular dystrophy 2D ClinVar:SGCA Ensembl:ENSG00000108823 Genatlas:SGCA HGNC:10805 OMIM:600119 SwissProt:Q16586 SGCA sarcoglycan alpha 4q12 A3b SGC ClinVar:SGCB Ensembl:ENSG00000163069 Genatlas:SGCB HGNC:10806 OMIM:600900 Reactome:Q16585 SwissProt:Q16585 SGCB sarcoglycan beta 5q33.2-q33.3 CMD1L DAGD LGMD2F ClinVar:SGCD Ensembl:ENSG00000170624 Genatlas:SGCD HGNC:10807 OMIM:601411 SwissProt:Q92629 SGCD sarcoglycan delta 7q21.3 ClinVar:SGCE Ensembl:ENSG00000127990 Genatlas:SGCE HGNC:10808 OMIM:604149 SwissProt:O43556 SGCE sarcoglycan epsilon 13q12.12 35kD dystrophin-associated glycoprotein A4 DAGA4 DMDA MGC130048 Maghrebian myopathy (autosomal recessive) SCARMD2 SCG3 TYPE gamma sarcoglycan limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive) ClinVar:SGCG Ensembl:ENSG00000102683 Genatlas:SGCG HGNC:10809 OMIM:608896 Reactome:Q13326 SwissProt:Q13326 SGCG sarcoglycan gamma 17q25.3 HSS MPS3A SFMD mucopolysaccharidosis type IIIA sulfamidase ClinVar:SGSH Ensembl:ENSG00000181523 Genatlas:SGSH HGNC:10818 OMIM:605270 Reactome:P51688 SwissProt:P51688 SGSH N-sulfoglucosamine sulfohydrolase Xq25 DSHP Duncan's disease EBVS MTCP1 SAP XLP XLPD ClinVar:SH2D1A Ensembl:ENSG00000183918 Genatlas:SH2D1A HGNC:10820 OMIM:300490 Reactome:O60880 SwissProt:O60880 SH2D1A SH2 domain containing 1A 4p16.3 CRBM RES4-23 ClinVar:SH3BP2 Ensembl:ENSG00000087266 Genatlas:SH3BP2 HGNC:10825 OMIM:602104 Reactome:P78314 SwissProt:P78314 SH3BP2 SH3 domain binding protein 2 5q32 CMT4C KIAA1985 ClinVar:SH3TC2 Ensembl:ENSG00000169247 Genatlas:SH3TC2 HGNC:29427 OMIM:608206 SwissProt:Q8TF17 SH3TC2 SH3 domain and tetratricopeptide repeats 2 22q13.33 KIAA1650 PSAP2 SPANK-2 proline rich synapse associated protein 2 prosap2 shank postsynaptic density protein shank3 postsynaptic density protein ClinVar:SHANK3 Ensembl:ENSG00000251322 Genatlas:SHANK3 HGNC:14294 OMIM:606230 Reactome:Q9BYB0 SwissProt:Q9BYB0 SHANK3 SH3 and multiple ankyrin repeat domains 3 Arts syndrome Lethal ataxia with hearing loss and optic atrophy Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. Orphanet ICD-10:E79.8 ICD-11:LD2H.Y MONDO:0010533 MeSH:C535388 OMIM:301835 UMLS:C0796028 X-linked recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1187 Lethal ataxia with deafness and optic atrophy ORPHA:1187 ICD-10:E79.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010533 E (Exact mapping: the two concepts are equivalent) MeSH:C535388 E (Exact mapping: the two concepts are equivalent) OMIM:301835 E (Exact mapping: the two concepts are equivalent) UMLS:C0796028 E (Exact mapping: the two concepts are equivalent) 7q36.3 HHG1 MCOPCB5 SMMCI TPT TPTPS ClinVar:SHH Ensembl:ENSG00000164690 Genatlas:SHH HGNC:10848 OMIM:600725 Reactome:Q15465 SwissProt:Q15465 SHH sonic hedgehog signaling molecule Xp22.33 and Yp11.32 GCFX PHOG SHOX1 SHOXY SS pseudoautosomal homeobox-containing osteogenic gene ClinVar:SHOX Ensembl:ENSG00000185960 Genatlas:SHOX HGNC:10853 OMIM:312865 OMIM:400020 SwissProt:O15266 SHOX SHOX homeobox Xp11.22 KIAA1202 Protein Shroom4 SHAP Second homolog of apical protein Shrm4 ClinVar:SHROOM4 Ensembl:ENSG00000158352 Genatlas:SHROOM4 HGNC:29215 OMIM:300579 SwissProt:Q9ULL8 SHROOM4 shroom family member 4 3q26.1 Alpha-methylglucosidase Oligo-1,6-glucosidase Oligosaccharide alpha-1,6-glucosidase alpha-glucosidase ClinVar:SI Ensembl:ENSG00000090402 Genatlas:SI HGNC:10856 OMIM:609845 Reactome:P14410 SwissProt:P14410 SI sucrase-isomaltase 5q31.2 BAP ULG5 ClinVar:SIL1 Ensembl:ENSG00000120725 Genatlas:SIL1 HGNC:24624 OMIM:608005 SwissProt:Q9H173 SIL1 SIL1 nucleotide exchange factor 14q23.1 ClinVar:SIX1 Ensembl:ENSG00000126778 Genatlas:SIX1 HGNC:10887 OMIM:601205 Reactome:Q15475 SwissProt:Q15475 SIX1 SIX homeobox 1 2p21 ClinVar:SIX3 Ensembl:ENSG00000138083 Genatlas:SIX3 HGNC:10889 OMIM:603714 Reactome:O95343 SwissProt:O95343 SIX3 SIX homeobox 3 14q23.1 Six9 ClinVar:SIX6 Ensembl:ENSG00000184302 Genatlas:SIX6 HGNC:10892 OMIM:606326 SwissProt:O95475 SIX6 SIX homeobox 6 12q13.12 DCT1 DMT-1 DMT1 FLJ37416 Natural resistance-associated macrophage protein 2 divalent cation transporter 1 divalent metal transporter 1 ClinVar:SLC11A2 Ensembl:ENSG00000110911 Genatlas:SLC11A2 HGNC:10908 IUPHAR:967 OMIM:600523 Reactome:P49281 SwissProt:P49281 SLC11A2 solute carrier family 11 member 2 16q13 NCC NCCT Na-Cl symporter TSC Thiazide-sensitive sodium-chloride cotransporter sodium-chloride co-transporter ClinVar:SLC12A3 Ensembl:ENSG00000070915 Genatlas:SLC12A3 HGNC:10912 IUPHAR:970 OMIM:600968 Reactome:P55017 SwissProt:P55017 SLC12A3 solute carrier family 12 member 3 15q14 K-Cl cotransporter 3 KCC3A KCC3B ClinVar:SLC12A6 Ensembl:ENSG00000140199 Genatlas:SLC12A6 HGNC:10914 IUPHAR:973 OMIM:604878 Reactome:Q9UHW9 SwissProt:Q9UHW9 SLC12A6 solute carrier family 12 member 6 Xq13.2 DXS128E MCT7 MCT8 X-linked PEST-containing transporter XPCT monocarboxylate transporter 8 ClinVar:SLC16A2 Ensembl:ENSG00000147100 Genatlas:SLC16A2 HGNC:10923 IUPHAR:992 OMIM:300095 Reactome:P36021 SwissProt:P36021 SLC16A2 solute carrier family 16 member 2 6q13 AST ISSD NSD SD SIALIN SLD Salla disease acidic sugar transporter infantile sialic acid storage disorder ClinVar:SLC17A5 Ensembl:ENSG00000119899 Genatlas:SLC17A5 HGNC:10933 IUPHAR:1006 OMIM:604322 Reactome:Q9NRA2 SwissProt:Q9NRA2 SLC17A5 solute carrier family 17 member 5 1q24.2 THTR1 ThT1 Thiamine transporter 1 thiamine-responsive megaloblastic anaemia ClinVar:SLC19A2 Ensembl:ENSG00000117479 Genatlas:SLC19A2 HGNC:10938 IUPHAR:1015 OMIM:603941 Reactome:O60779 SwissProt:O60779 SLC19A2 solute carrier family 19 member 2 2q36.3 THTR2 hTHTR2 thTr-2 thiamine transporter 2 ClinVar:SLC19A3 Ensembl:ENSG00000135917 Genatlas:SLC19A3 HGNC:16266 IUPHAR:1016 OMIM:606152 Reactome:Q9BZV2 SwissProt:Q9BZV2 SLC19A3 solute carrier family 19 member 3 5q31.1 OCTN2 SCD organic cation/carnitine transporter 2 systemic carnitine deficiency ClinVar:SLC22A5 Ensembl:ENSG00000197375 Genatlas:SLC22A5 HGNC:10969 IUPHAR:1023 OMIM:603377 Reactome:O76082 SwissProt:O76082 SLC22A5 solute carrier family 22 member 5 7q21.3 ARALAR2 CITRIN Calcium-binding mitochondrial carrier protein Aralar2 citrullinemia type II mitochondrial aspartate glutamate carrier 2 ClinVar:SLC25A13 Ensembl:ENSG00000004864 Genatlas:SLC25A13 HGNC:10983 IUPHAR:1055 OMIM:603859 Reactome:Q9UJS0 SwissProt:Q9UJS0 SLC25A13 solute carrier family 25 member 13 13q14.11 D13S327 Mitochondrial ornithine transporter 1 ORC1 lnc-HC ornithine carrier 1 ornithine transporter 1 ClinVar:SLC25A15 Ensembl:ENSG00000102743 Genatlas:SLC25A15 HGNC:10985 IUPHAR:1060 OMIM:603861 Reactome:Q9Y619 SwissProt:Q9Y619 SLC25A15 solute carrier family 25 member 15 17q25.1 DNC Deoxynucleotide carrier MUP1 Mitochondrial thiamine pyrophosphate carrier TPC mitochondrial uncoupling protein 1 ClinVar:SLC25A19 Ensembl:ENSG00000125454 Genatlas:SLC25A19 HGNC:14409 IUPHAR:1073 OMIM:606521 Reactome:Q9HC21 SwissProt:Q9HC21 SLC25A19 solute carrier family 25 member 19 3p21.31 CAC Mitochondrial carnitine/acylcarnitine carrier protein carnitine-acylcarnitine carrier carnitine/acylcarnitine translocase ClinVar:SLC25A20 Ensembl:ENSG00000178537 Genatlas:SLC25A20 HGNC:1421 IUPHAR:1076 OMIM:613698 Reactome:O43772 SwissProt:O43772 SLC25A20 solute carrier family 25 member 20 Ataxia-hearing loss-intellectual disability syndrome Reardon-Baraitser syndrome A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:G11.1 ICD-11:LD2H.Y MONDO:0008838 OMIM:208850 UMLS:C4304023 Unknown Childhood Infancy Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1188 Historical entity Ataxia-deafness-intellectual disability syndrome ORPHA:1188 ICD-10:G11.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008838 E (Exact mapping: the two concepts are equivalent) OMIM:208850 E (Exact mapping: the two concepts are equivalent) UMLS:C4304023 E (Exact mapping: the two concepts are equivalent) 11p15.5 EIEE3 Early infantile epileptic encephalopathy 3 FLJ13044 GC-1 GC1 NET44 ClinVar:SLC25A22 Ensembl:ENSG00000177542 Genatlas:SLC25A22 HGNC:19954 IUPHAR:1058 OMIM:609302 Reactome:Q9H936 SwissProt:Q9H936 SLC25A22 solute carrier family 25 member 22 4q35.1 AAC1 ADP/ATP carrier 1 ADP/ATP translocase 1 T1 ClinVar:SLC25A4 Ensembl:ENSG00000151729 Genatlas:SLC25A4 HGNC:10990 IUPHAR:1062 OMIM:103220 Reactome:P12235 SwissProt:P12235 SLC25A4 solute carrier family 25 member 4 5q32 DTDST diastrophic dysplasia sulfate transporter ClinVar:SLC26A2 Ensembl:ENSG00000155850 Genatlas:SLC26A2 HGNC:10994 IUPHAR:1098 OMIM:606718 Reactome:P50443 SwissProt:P50443 SLC26A2 solute carrier family 26 member 2 7q22.3-q31.1 Chloride anion exchanger ClinVar:SLC26A3 Ensembl:ENSG00000091138 Genatlas:SLC26A3 HGNC:3018 IUPHAR:1099 OMIM:126650 Reactome:P40879 SwissProt:P40879 SLC26A3 solute carrier family 26 member 3 7q22.3 PDS Pendred syndrome pendrin ClinVar:SLC26A4 Ensembl:ENSG00000091137 Genatlas:SLC26A4 HGNC:8818 IUPHAR:1100 OMIM:605646 Reactome:O43511 SwissProt:O43511 SLC26A4 solute carrier family 26 member 4 20q13.12 GLUT-10 GLUT10 facilitative glucose transporter GLUT10 ClinVar:SLC2A10 Ensembl:ENSG00000197496 Genatlas:SLC2A10 HGNC:13444 IUPHAR:886 OMIM:606145 Reactome:O95528 SwissProt:O95528 SLC2A10 solute carrier family 2 member 10 3q26.2 GLUT-2 ClinVar:SLC2A2 Ensembl:ENSG00000163581 Genatlas:SLC2A2 HGNC:11006 IUPHAR:876 OMIM:138160 Reactome:P11168 SwissProt:P11168 SLC2A2 solute carrier family 2 member 2 4p15.2 NAPI-3B NAPI-IIb NPTIIb NaPi-2b NaPi2b Sodium-dependent phosphate transport protein 2B ClinVar:SLC34A2 Ensembl:ENSG00000157765 Genatlas:SLC34A2 HGNC:11020 IUPHAR:1136 OMIM:604217 Reactome:O95436 SwissProt:O95436 SLC34A2 solute carrier family 34 member 2 9q34.3 FLJ38680 NPT2C NPTIIc NaPi-2c Sodium-dependent phosphate transport protein 2C ClinVar:SLC34A3 Ensembl:ENSG00000198569 Genatlas:SLC34A3 HGNC:20305 IUPHAR:1137 OMIM:609826 Reactome:Q8N130 SwissProt:Q8N130 SLC34A3 solute carrier family 34 member 3 11p11.2 FLJ11320 FUCT1 GDP-fucose transporter 1 ClinVar:SLC35C1 Ensembl:ENSG00000181830 Genatlas:SLC35C1 HGNC:20197 IUPHAR:1147 OMIM:605881 Reactome:Q96A29 SwissProt:Q96A29 SLC35C1 solute carrier family 35 member C1 16p11.2 SERCA1 calcium pump 1 sarcoplasmic/endoplasmic reticulum calcium ATPase 1 ClinVar:ATP2A1 Ensembl:ENSG00000196296 Genatlas:ATP2A1 HGNC:811 IUPHAR:840 OMIM:108730 Reactome:O14983 SwissProt:O14983 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 12q24.11 SERCA2 calcium pump 2 sarcoplasmic/endoplasmic reticulum calcium ATPase 2 ClinVar:ATP2A2 Ensembl:ENSG00000174437 Genatlas:ATP2A2 HGNC:812 IUPHAR:841 OMIM:108740 Reactome:P16615 SwissProt:P16615 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 3q22.1 ATP2C1A KIAA1347 PMR1 SPCA1 calcium-transporting ATPase type 2C member 1 secretory pathway Ca2+/Mn2+ ATPase 1 ClinVar:ATP2C1 Ensembl:ENSG00000017260 Genatlas:ATP2C1 HGNC:13211 IUPHAR:847 OMIM:604384 Reactome:P98194 SwissProt:P98194 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 Xp11.4 (P)RR APT6M8-9 ATP6M8-9 M8-9 PRR RENR V-ATPase M8.9 subunit prorenin receptor renin receptor ClinVar:ATP6AP2 Ensembl:ENSG00000182220 Genatlas:ATP6AP2 HGNC:18305 OMIM:300556 Reactome:O75787 SwissProt:O75787 ATP6AP2 ATPase H+ transporting accessory protein 2 7q34 RDRTA2 RTADR Stv1 V-ATPase subunit a4 VPP2 Vph1 a4 vacuolar proton pump subunit 2 ClinVar:ATP6V0A4 Ensembl:ENSG00000105929 Genatlas:ATP6V0A4 HGNC:866 IUPHAR:826 OMIM:605239 Reactome:Q9HBG4 SwissProt:Q9HBG4 ATP6V0A4 ATPase H+ transporting V0 subunit a4 2p13.3 RTA1B Renal tubular acidosis with deafness V-ATPase subunit B1 VATB Vma2 ClinVar:ATP6V1B1 Ensembl:ENSG00000116039 Genatlas:ATP6V1B1 HGNC:853 IUPHAR:811 OMIM:192132 Reactome:P15313 SwissProt:P15313 ATP6V1B1 ATPase H+ transporting V1 subunit B1 Xq21.1 copper pump 1 copper-transporting ATPase 1 ClinVar:ATP7A Ensembl:ENSG00000165240 Genatlas:ATP7A HGNC:869 IUPHAR:852 OMIM:300011 Reactome:Q04656 SwissProt:Q04656 ATP7A ATPase copper transporting alpha 13q14.3 Wilson disease copper pump 2 copper-transporting ATPase 2 ClinVar:ATP7B Ensembl:ENSG00000123191 Genatlas:ATP7B HGNC:870 IUPHAR:853 OMIM:606882 Reactome:P35670 SwissProt:P35670 ATP7B ATPase copper transporting beta 18q21.31 ATPIC PFIC ClinVar:ATP8B1 Ensembl:ENSG00000081923 Genatlas:ATP8B1 HGNC:3706 IUPHAR:856 OMIM:602397 Reactome:O43520 SwissProt:O43520 ATP8B1 ATPase phospholipid transporting 8B1 17p11.2 ATP12 Atp12p LP3663 MGC29736 ClinVar:ATPAF2 Ensembl:ENSG00000171953 Genatlas:ATPAF2 HGNC:18802 OMIM:608918 Reactome:Q8N5M1 SwissProt:Q8N5M1 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 3q23 FRP1 MEC1 MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae) SCKL SCKL1 ClinVar:ATR Ensembl:ENSG00000175054 Genatlas:ATR HGNC:882 IUPHAR:1935 OMIM:601215 Reactome:Q13535 SwissProt:Q13535 ATR ATR checkpoint kinase Xq21.1 RAD54 homolog (S. cerevisiae) XH2 XNP ClinVar:ATRX Ensembl:ENSG00000085224 Genatlas:ATRX HGNC:886 OMIM:300032 Reactome:P46100 SwissProt:P46100 ATRX ATRX chromatin remodeler 6p22.3 ATX1 D6S504E ClinVar:ATXN1 Ensembl:ENSG00000124788 Genatlas:ATXN1 HGNC:10548 OMIM:601556 Reactome:P54253 SwissProt:P54253 ATXN1 ataxin 1 22q13.31 ATX10 E46L FLJ37990 ClinVar:ATXN10 Ensembl:ENSG00000130638 Genatlas:ATXN10 HGNC:10549 OMIM:611150 Reactome:Q9UBB4 SwissProt:Q9UBB4 ATXN10 ataxin 10 12q24.12 ATX2 trinucleotide repeat containing 13 ClinVar:ATXN2 Ensembl:ENSG00000204842 Genatlas:ATXN2 HGNC:10555 OMIM:601517 Reactome:Q99700 SwissProt:Q99700 ATXN2 ataxin 2 14q32.12 ATX3 JOS ClinVar:ATXN3 Ensembl:ENSG00000066427 Genatlas:ATXN3 HGNC:7106 OMIM:607047 Reactome:P54252 SwissProt:P54252 ATXN3 ataxin 3 3p14.1 ADCAII Autosomal dominant cerebellar ataxia with retinal degeneration OPCA3 SAGA associated factor 73 kDa homolog (S. cerevisiae) SGF73 ClinVar:ATXN7 Ensembl:ENSG00000163635 Genatlas:ATXN7 HGNC:10560 OMIM:607640 Reactome:O15265 SwissProt:O15265 ATXN7 ataxin 7 13q21.33 ClinVar:ATXN8 Ensembl:ENSG00000288330 Genatlas:ATXN8 HGNC:32925 OMIM:613289 SwissProt:Q156A1 ATXN8 ataxin 8 9q22.31 ClinVar:AUH Ensembl:ENSG00000148090 Genatlas:AUH HGNC:890 OMIM:600529 Reactome:Q13825 SwissProt:Q13825 AUH AU RNA binding methylglutaconyl-CoA hydratase 20p13 ADH antidiuretic hormone copeptin diabetes insipidus neurohypophyseal neurophysin II prepro-AVP-NP II prepro-arginine-vasopressin-neurophysin II ClinVar:AVP Ensembl:ENSG00000101200 Genatlas:AVP HGNC:894 OMIM:192340 Reactome:P01185 SwissProt:P01185 AVP arginine vasopressin Xq28 V2R nephrogenic diabetes insipidus ClinVar:AVPR2 Ensembl:ENSG00000126895 Genatlas:AVPR2 HGNC:897 IUPHAR:368 OMIM:300538 Reactome:P30518 SwissProt:P30518 AVPR2 arginine vasopressin receptor 2 17q24.1 DKFZp781B0869 MGC126582 axil conductin ClinVar:AXIN2 Ensembl:ENSG00000168646 Genatlas:AXIN2 HGNC:904 IUPHAR:3237 OMIM:604025 Reactome:Q9Y2T1 SwissProt:Q9Y2T1 AXIN2 axin 2 13q12.3 B3GTL B3Glc-T beta-1,3-glucosyltransferase ClinVar:B3GALTL Ensembl:ENSG00000187676 Genatlas:B3GALTL HGNC:20207 OMIM:610308 Reactome:Q6Y288 SwissProt:Q6Y288 B3GLCT beta 3-glucosyltransferase 9p21.1 Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase N-acetyllactosamine synthase beta4Gal-T1 lactose synthase A ClinVar:B4GALT1 Ensembl:ENSG00000086062 Genatlas:B4GALT1 HGNC:924 OMIM:137060 Reactome:P15291 SwissProt:P15291 B4GALT1 beta-1,4-galactosyltransferase 1 5q35.3 XGALT-1 beta4Gal-T7 galactosyltransferase I ClinVar:B4GALT7 Ensembl:ENSG00000027847 Genatlas:B4GALT7 HGNC:930 OMIM:604327 Reactome:Q9UBV7 SwissProt:Q9UBV7 B4GALT7 beta-1,4-galactosyltransferase 7 7q11.23 WSTF Williams-Beuren syndrome chromosome region 10 Williams-Beuren syndrome chromosome region 9 transcription factor WSTF ClinVar:BAZ1B Ensembl:ENSG00000009954 Genatlas:BAZ1B HGNC:961 IUPHAR:2774 OMIM:605681 Reactome:Q9UIG0 SwissProt:Q9UIG0 BAZ1B bromodomain adjacent to zinc finger domain 1B 11q13.2 FLJ23590 ClinVar:BBS1 Ensembl:ENSG00000174483 Genatlas:BBS1 HGNC:966 OMIM:209901 Reactome:Q8NFJ9 SwissProt:Q8NFJ9 BBS1 Bardet-Biedl syndrome 1 12q21.2 FLJ23560 ClinVar:BBS10 Ensembl:ENSG00000179941 Genatlas:BBS10 HGNC:26291 OMIM:610148 Reactome:Q8TAM1 SwissProt:Q8TAM1 BBS10 Bardet-Biedl syndrome 10 16q13 ClinVar:BBS2 Ensembl:ENSG00000125124 Genatlas:BBS2 HGNC:967 OMIM:606151 Reactome:Q9BXC9 SwissProt:Q9BXC9 BBS2 Bardet-Biedl syndrome 2 15q24.1 ClinVar:BBS4 Ensembl:ENSG00000140463 Genatlas:BBS4 HGNC:969 OMIM:600374 Reactome:Q96RK4 SwissProt:Q96RK4 BBS4 Bardet-Biedl syndrome 4 2q31.1 DKFZp762I194 ClinVar:BBS5 Ensembl:ENSG00000163093 Genatlas:BBS5 HGNC:970 OMIM:603650 Reactome:Q8N3I7 SwissProt:Q8N3I7 BBS5 Bardet-Biedl syndrome 5 4q27 BBS2L1 FLJ10715 ClinVar:BBS7 Ensembl:ENSG00000138686 Genatlas:BBS7 HGNC:18758 OMIM:607590 Reactome:Q8IWZ6 SwissProt:Q8IWZ6 BBS7 Bardet-Biedl syndrome 7 7p14.3 B1 PTHB1 parathyroid hormone responsive B1 gene ClinVar:BBS9 Ensembl:ENSG00000122507 Genatlas:BBS9 HGNC:30000 OMIM:607968 Reactome:Q3SYG4 SwissProt:Q3SYG4 BBS9 Bardet-Biedl syndrome 9 3q26.1 E1 ClinVar:BCHE Ensembl:ENSG00000114200 Genatlas:BCHE HGNC:983 IUPHAR:2471 OMIM:177400 Reactome:P06276 SwissProt:P06276 BCHE butyrylcholinesterase Autosomal recessive limb-girdle muscular dystrophy type 2E Beta-sarcoglycan-related LGMD R4 Beta-sarcoglycanopathy LGMD due to beta-sarcoglycan deficiency LGMD type 2E LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency Limb-girdle muscular dystrophy type 2E A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed. Orphanet ICD-10:G71.0 ICD-11:8C70.41 MONDO:0011423 MeSH:C535902 OMIM:604286 UMLS:C1858593 Autosomal recessive Adolescent Childhood Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 ORPHA:119 ICD-10:G71.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8C70.41 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011423 E (Exact mapping: the two concepts are equivalent) MeSH:C535902 E (Exact mapping: the two concepts are equivalent) OMIM:604286 E (Exact mapping: the two concepts are equivalent) UMLS:C1858593 E (Exact mapping: the two concepts are equivalent) AO1 AOI Atelosteogenesis type 1 Giant cell chondrodysplasia Spondylo-humero-femoral dysplasia A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. Orphanet ICD-10:Q78.8 ICD-11:LD24.E MONDO:0007167 MeSH:C535396 OMIM:108720 UMLS:C0265283 Autosomal dominant Antenatal Neonatal Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1190 Atelosteogenesis type I ORPHA:1190 ICD-10:Q78.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007167 E (Exact mapping: the two concepts are equivalent) MeSH:C535396 E (Exact mapping: the two concepts are equivalent) OMIM:108720 E (Exact mapping: the two concepts are equivalent) UMLS:C0265283 E (Exact mapping: the two concepts are equivalent) 19q13.2 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial MSU maple syrup urine disease ClinVar:BCKDHA Ensembl:ENSG00000248098 Genatlas:BCKDHA HGNC:986 OMIM:608348 Reactome:P12694 SwissProt:P12694 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha 6q14.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial OVD1B maple syrup urine disease ClinVar:BCKDHB Ensembl:ENSG00000083123 Genatlas:BCKDHB HGNC:987 OMIM:248611 Reactome:P21953 SwissProt:P21953 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta 18q21.33 Bcl-2 PPP1R50 protein phosphatase 1, regulatory subunit 50 ClinVar:BCL2 Ensembl:ENSG00000171791 Genatlas:BCL2 HGNC:990 IUPHAR:2844 OMIM:151430 Reactome:P10415 SwissProt:P10415 BCL2 BCL2 apoptosis regulator Xp11.4 BCL-6 coreceptor BCL6 interacting corepressor FLJ20285 KIAA1575 ClinVar:BCOR Ensembl:ENSG00000183337 Genatlas:BCOR HGNC:20893 OMIM:300485 Reactome:Q6W2J9 SwissProt:Q6W2J9 BCOR BCL6 corepressor 22q11.23 ALL CML D22S662 PHL ClinVar:BCR Ensembl:ENSG00000186716 Genatlas:BCR HGNC:1014 IUPHAR:2755 OMIM:151410 Reactome:P11274 SwissProt:P11274 BCR BCR activator of RhoGEF and GTPase 2q35 BCS BJS Bjornstad syndrome GRACILE syndrome Hs.6719 h-BCS ClinVar:BCS1L Ensembl:ENSG00000074582 Genatlas:BCS1L HGNC:1020 OMIM:603647 Reactome:Q9Y276 SwissProt:Q9Y276 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 11p14.1 neurotrophin ClinVar:BDNF Ensembl:ENSG00000176697 Genatlas:BDNF HGNC:1033 OMIM:113505 SwissProt:P23560 BDNF brain derived neurotrophic factor 11q12.3 BEST BMD Best disease RP50 ClinVar:BEST1 Ensembl:ENSG00000167995 Genatlas:BEST1 HGNC:12703 OMIM:607854 Reactome:O76090 SwissProt:O76090 BEST1 bestrophin 1 3q22.1 CP47 CP49 LIFL-L phakinin ClinVar:BFSP2 Ensembl:ENSG00000170819 Genatlas:BFSP2 HGNC:1041 OMIM:603212 Reactome:Q13515 SwissProt:Q13515 BFSP2 beaded filament structural protein 2 19q13.32 BLOC-1 subunit 3 BLOS3 Biogenesis of Lysosome-related Organelles complex-1 Subunit 3 HPS8 Hermansky-Pudlak syndrome 8 ClinVar:BLOC1S3 Ensembl:ENSG00000189114 Genatlas:BLOC1S3 HGNC:20914 OMIM:609762 Reactome:Q6QNY0 SwissProt:Q6QNY0 BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 10q23.2 ALK3 CD292 ClinVar:BMPR1A Ensembl:ENSG00000107779 Genatlas:BMPR1A HGNC:1076 IUPHAR:1786 OMIM:601299 Reactome:P36894 SwissProt:P36894 BMPR1A bone morphogenetic protein receptor type 1A 4q22.3 ALK6 CDw293 ClinVar:BMPR1B Ensembl:ENSG00000138696 Genatlas:BMPR1B HGNC:1077 IUPHAR:1789 OMIM:603248 Reactome:O00238 SwissProt:O00238 BMPR1B bone morphogenetic protein receptor type 1B 2q33.1-q33.2 BMPR-II BMPR3 BRK-3 T-ALK ClinVar:BMPR2 Ensembl:ENSG00000204217 Genatlas:BMPR2 HGNC:1078 IUPHAR:1794 OMIM:600799 Reactome:Q13873 SwissProt:Q13873 BMPR2 bone morphogenetic protein receptor type 2 7q33 ClinVar:BPGM Ensembl:ENSG00000172331 Genatlas:BPGM HGNC:1093 OMIM:613896 Reactome:P07738 SwissProt:P07738 BPGM bisphosphoglycerate mutase 7q34 BRAF-1 BRAF1 ClinVar:BRAF Ensembl:ENSG00000157764 Genatlas:BRAF HGNC:1097 IUPHAR:1943 OMIM:164757 Reactome:P15056 SwissProt:P15056 BRAF B-Raf proto-oncogene, serine/threonine kinase 17q21.31 BRCA1/BRCA2-containing complex, subunit 1 BRCC1 FANCS Fanconi anemia, complementation group S PPP1R53 RNF53 protein phosphatase 1, regulatory subunit 53 ClinVar:BRCA1 Ensembl:ENSG00000012048 Genatlas:BRCA1 HGNC:1100 OMIM:113705 Reactome:P38398 SwissProt:P38398 BRCA1 BRCA1 DNA repair associated 13q13.1 BRCA1/BRCA2-containing complex, subunit 2 BRCC2 FAD FAD1 XRCC11 ClinVar:BRCA2 Ensembl:ENSG00000139618 Genatlas:BRCA2 HGNC:1101 OMIM:600185 Reactome:P51587 SwissProt:P51587 BRCA2 BRCA2 DNA repair associated 17q23.2 BACH1 BRCA1 interacting protein 1 BRCA1-associated C-terminal helicase BRCA1/BRCA2-associated helicase 1 FANCJ FANCJ helicase OF ClinVar:BRIP1 Ensembl:ENSG00000136492 Genatlas:BRIP1 HGNC:20473 OMIM:605882 Reactome:Q9BX63 SwissProt:Q9BX63 BRIP1 BRCA1 interacting DNA helicase 1 11q12.3 seipin ClinVar:BSCL2 Ensembl:ENSG00000168000 Genatlas:BSCL2 HGNC:15832 OMIM:606158 SwissProt:Q96G97 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin 1p32.3 BART ClinVar:BSND Ensembl:ENSG00000162399 Genatlas:BSND HGNC:16512 OMIM:606412 Reactome:Q8WZ55 SwissProt:Q8WZ55 BSND barttin CLCNK type accessory subunit beta 3p25.1 biocytinase biotinase ClinVar:BTD Ensembl:ENSG00000169814 Genatlas:BTD HGNC:1122 OMIM:609019 Reactome:P43251 SwissProt:P43251 BTD biotinidase Xq22.1 ATK Bruton's tyrosine kinase PSCTK1 XLA ClinVar:BTK Ensembl:ENSG00000010671 Genatlas:BTK HGNC:1133 IUPHAR:1948 OMIM:300300 Reactome:Q06187 SwissProt:Q06187 BTK Bruton tyrosine kinase 15q15.1 BUBR1 Bub1A MAD3L SSK1 ClinVar:BUB1B Ensembl:ENSG00000156970 Genatlas:BUB1B HGNC:1149 IUPHAR:1950 OMIM:602860 Reactome:O60566 SwissProt:O60566 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B 6p21.33 ClinVar:C2 Ensembl:ENSG00000166278 Genatlas:C2 HGNC:1248 OMIM:613927 Reactome:P06681 SwissProt:P06681 C2 complement C2 7p14.1 ORF20 TTDN1 tricothiodystrophy, non-photosensitive 1 ClinVar:C7orf11 Ensembl:ENSG00000168303 Genatlas:C7orf11 HGNC:16002 OMIM:609188 SwissProt:Q8TAP9 MPLKIP M-phase specific PLK1 interacting protein 8q21.2 CA-II CAII Car2 ClinVar:CA2 Ensembl:ENSG00000104267 Genatlas:CA2 HGNC:1373 IUPHAR:3092 OMIM:611492 Reactome:P00918 SwissProt:P00918 CA2 carbonic anhydrase 2 17q23.1 CAIV Car4 ClinVar:CA4 Ensembl:ENSG00000167434 Genatlas:CA4 HGNC:1375 IUPHAR:2599 OMIM:114760 Reactome:P22748 SwissProt:P22748 CA4 carbonic anhydrase 4 11q13.2 CSNB2B ClinVar:CABP4 Ensembl:ENSG00000175544 Genatlas:CABP4 HGNC:1386 OMIM:608965 SwissProt:P57796 CABP4 calcium binding protein 4 19p13.13 APCA Cav2.1 EA2 FHM HPCA ClinVar:CACNA1A Ensembl:ENSG00000141837 Genatlas:CACNA1A HGNC:1388 IUPHAR:532 OMIM:601011 Reactome:O00555 SwissProt:O00555 CACNA1A calcium voltage-gated channel subunit alpha1 A 12p13.33 CACH2 CACN2 Cav1.2 LQT8 TS ClinVar:CACNA1C Ensembl:ENSG00000151067 Genatlas:CACNA1C HGNC:1390 IUPHAR:529 OMIM:114205 Reactome:Q13936 SwissProt:Q13936 CACNA1C calcium voltage-gated channel subunit alpha1 C Xp11.23 CORDX3 CSNB2A CSNBX2 Cav1.4 JM8 JMC8 OA2 ClinVar:CACNA1F Ensembl:ENSG00000102001 Genatlas:CACNA1F HGNC:1393 IUPHAR:531 OMIM:300110 Reactome:O60840 SwissProt:O60840 CACNA1F calcium voltage-gated channel subunit alpha1 F 1q32.1 Cav1.1 hypoPP ClinVar:CACNA1S Ensembl:ENSG00000081248 Genatlas:CACNA1S HGNC:1397 IUPHAR:528 OMIM:114208 Reactome:Q13698 SwissProt:Q13698 CACNA1S calcium voltage-gated channel subunit alpha1 S 10p12 ClinVar:CACNB2 Ensembl:ENSG00000165995 Genatlas:CACNB2 HGNC:1402 OMIM:600003 Reactome:Q08289 SwissProt:Q08289 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 2q23.3 EJM4 ClinVar:CACNB4 Ensembl:ENSG00000182389 Genatlas:CACNB4 HGNC:1404 OMIM:601949 Reactome:O00305 SwissProt:O00305 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 15q15.1 CANP3 nCL-1 p94 ClinVar:CAPN3 Ensembl:ENSG00000092529 Genatlas:CAPN3 HGNC:1480 OMIM:114240 Reactome:P20807 SwissProt:P20807 CAPN3 calpain 3 2q33.1 FAS-associated death domain protein interleukin-1B-converting enzyme 2 FLICE-2 MCH4 ClinVar:CASP10 Ensembl:ENSG00000003400 Genatlas:CASP10 HGNC:1500 IUPHAR:1626 OMIM:601762 Reactome:Q92851 SwissProt:Q92851 CASP10 caspase 10 1p13.1 PDIB2 ClinVar:CASQ2 Ensembl:ENSG00000118729 Genatlas:CASQ2 HGNC:1513 OMIM:114251 Reactome:O14958 SwissProt:O14958 CASQ2 calsequestrin 2 3q13.33-q21.1 FHH GPRC2A NSHPT severe neonatal hyperparathyroidism ClinVar:CASR Ensembl:ENSG00000036828 Genatlas:CASR HGNC:1514 IUPHAR:54 OMIM:601199 Reactome:P41180 SwissProt:P41180 CASR calcium sensing receptor 11p13 ClinVar:CAT Ensembl:ENSG00000121691 Genatlas:CAT HGNC:1516 IUPHAR:2979 OMIM:115500 Reactome:P04040 SwissProt:P04040 CAT catalase 3p25.3 LGMD1C LQT9 M-caveolin VIP-21 VIP21 ClinVar:CAV3 Ensembl:ENSG00000182533 Genatlas:CAV3 HGNC:1529 OMIM:601253 Reactome:P56539 SwissProt:P56539 CAV3 caveolin 3 21q22.3 HIP4 ClinVar:CBS Ensembl:ENSG00000160200 Genatlas:CBS HGNC:1550 IUPHAR:1443 OMIM:613381 Reactome:P35520 SwissProt:P35520 CBS cystathionine beta-synthase Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome Feigenbaum-Bergeron-Richardson syndrome A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. Orphanet ICD-10:I70.9 ICD-11:LD2H.Y MONDO:0008843 MeSH:C536178 OMIM:209010 UMLS:C2931125 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1192 Historical entity Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ORPHA:1192 ICD-10:I70.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008843 E (Exact mapping: the two concepts are equivalent) MeSH:C536178 E (Exact mapping: the two concepts are equivalent) OMIM:209010 E (Exact mapping: the two concepts are equivalent) UMLS:C2931125 E (Exact mapping: the two concepts are equivalent) 19p13.12 Aki-1 Akt Kinase-Interacting Protein 1 FLJ20241 Five prime repressor element under dual repression-binding protein 1 Freud-1 Lgd2 MRT3 TAPE TBK1-associated protein in endolysosomes lethal (2) giant discs homolog 2 mental retardation, nonsyndromic, autosomal recessive, 3 ClinVar:CC2D1A Ensembl:ENSG00000132024 Genatlas:CC2D1A HGNC:30237 OMIM:610055 SwissProt:Q6P1N0 CC2D1A coiled-coil and C2 domain containing 1A 10q21.2 DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1 H4 PTC PTC1 TPC thyroid papillary carcinoma ClinVar:CCDC6 Ensembl:ENSG00000108091 Genatlas:CCDC6 HGNC:18782 OMIM:601985 SwissProt:Q16204 CCDC6 coiled-coil domain containing 6 7p13 MGC4607 OSM malcavernin osmosensing scaffold for MEKK3 ClinVar:CCM2 Ensembl:ENSG00000136280 Genatlas:CCM2 HGNC:21708 OMIM:607929 SwissProt:Q9BSQ5 CCM2 CCM2 scaffold protein 11q13.3 B-cell CLL/lymphoma 1 G1/S-specific cyclin D1 U21B31 parathyroid adenomatosis 1 ClinVar:CCND1 Ensembl:ENSG00000110092 Genatlas:CCND1 HGNC:1582 OMIM:168461 Reactome:P24385 SwissProt:P24385 CCND1 cyclin D1 5p15.2 CCT-epsilon CCTE KIAA0098 ClinVar:CCT5 Ensembl:ENSG00000150753 Genatlas:CCT5 HGNC:1618 OMIM:610150 Reactome:P48643 SwissProt:P48643 CCT5 chaperonin containing TCP1 subunit 5 16p11.2 ClinVar:CD19 Ensembl:ENSG00000177455 Genatlas:CD19 HGNC:1633 IUPHAR:2764 OMIM:107265 Reactome:P15391 SwissProt:P15391 CD19 CD19 molecule 20q13.12 Bp50 p50 ClinVar:CD40 Ensembl:ENSG00000101017 Genatlas:CD40 HGNC:11919 IUPHAR:1874 OMIM:109535 Reactome:P25942 SwissProt:P25942 CD40 CD40 molecule Xq26.3 CD154 CD40 antigen ligand CD40-L CD40L T-B cell-activating molecule T-BAM TNF-related activation protein TRAP gp39 hCD40L hyper-IgM syndrome tumor necrosis factor (ligand) superfamily member 5 ClinVar:CD40LG Ensembl:ENSG00000102245 Genatlas:CD40LG HGNC:11935 OMIM:300386 Reactome:P29965 SwissProt:P29965 CD40LG CD40 ligand 1q32.2 MGC26544 TLX TRA2.10 trophoblast-lymphocyte cross-reactive antigen ClinVar:CD46 Ensembl:ENSG00000117335 Genatlas:CD46 HGNC:6953 OMIM:120920 Reactome:P15529 SwissProt:P15529 CD46 CD46 molecule 15q15.2 CDA-I CDAI ClinVar:CDAN1 Ensembl:ENSG00000140326 Genatlas:CDAN1 HGNC:1713 OMIM:607465 Reactome:Q8IWY9 SwissProt:Q8IWY9 CDAN1 codanin 1 1q31.2 FIHP Paf1/RNA polymerase II complex component parafibromin ClinVar:CDC73 Ensembl:ENSG00000134371 Genatlas:CDC73 HGNC:16783 OMIM:607393 Reactome:Q6P1J9 SwissProt:Q6P1J9 CDC73 cell division cycle 73 16q22.1 CD324 E-Cadherin uvomorulin ClinVar:CDH1 Ensembl:ENSG00000039068 Genatlas:CDH1 HGNC:1748 OMIM:192090 Reactome:P12830 SwissProt:P12830 CDH1 cadherin 1 10q22.1 CDHR23 cadherin-related family member 23 ClinVar:CDH23 Ensembl:ENSG00000107736 Genatlas:CDH23 HGNC:13733 OMIM:605516 SwissProt:Q9H251 CDH23 cadherin related 23 16q22.1 CDHP P-cadherin PCAD ClinVar:CDH3 Ensembl:ENSG00000062038 Genatlas:CDH3 HGNC:1762 OMIM:114021 Reactome:P22223 SwissProt:P22223 CDH3 cadherin 3 12q14.1 PSK-J3 ClinVar:CDK4 Ensembl:ENSG00000135446 Genatlas:CDK4 HGNC:1773 IUPHAR:1976 OMIM:123829 Reactome:P11802 SwissProt:P11802 CDK4 cyclin dependent kinase 4 9q33.2 C48 CEP215 FLJ10867 centrosomin ClinVar:CDK5RAP2 Ensembl:ENSG00000136861 Genatlas:CDK5RAP2 HGNC:18672 OMIM:608201 Reactome:Q96SN8 SwissProt:Q96SN8 CDK5RAP2 CDK5 regulatory subunit associated protein 2 Xp22.13 CFAP247 EIEE2 ClinVar:CDKL5 Ensembl:ENSG00000008086 Genatlas:CDKL5 HGNC:11411 IUPHAR:1986 OMIM:300203 Reactome:O76039 SwissProt:O76039 CDKL5 cyclin dependent kinase like 5 X-linked intellectual disability, Atkin type A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers. Orphanet ICD-10:Q87.8 MONDO:0010323 MeSH:C538195 OMIM:300431 UMLS:C0796206 X-linked dominant Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1193 Atkin-Flaitz syndrome ORPHA:1193 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0010323 E (Exact mapping: the two concepts are equivalent) MeSH:C538195 E (Exact mapping: the two concepts are equivalent) OMIM:300431 E (Exact mapping: the two concepts are equivalent) UMLS:C0796206 E (Exact mapping: the two concepts are equivalent) 11p15.4 KIP2 P57 ClinVar:CDKN1C Ensembl:ENSG00000129757 Genatlas:CDKN1C HGNC:1786 OMIM:600856 Reactome:P49918 SwissProt:P49918 CDKN1C cyclin dependent kinase inhibitor 1C 9p21.3 ARF CAI2 CDK4I CDKN2A/ARF Intron 2 lncRNA CMM2 INK4 INK4a MTS1 P16-INK4A cyclin-dependent kinase 4 inhibitor A inhibitor of cdk4 A multiple tumour suppressor 1 p14 p14 alternate open reading frame p14ARF p16 p16INK4a p19 p19 alternate open reading frame p19Arf ClinVar:CDKN2A Ensembl:ENSG00000147889 Genatlas:CDKN2A HGNC:1787 OMIM:600160 Reactome:P42771 SwissProt:P42771 CDKN2A cyclin dependent kinase inhibitor 2A 6p21.33 D6S586E ClinVar:CDSN Ensembl:ENSG00000204539 Genatlas:CDSN HGNC:1802 OMIM:602593 Reactome:Q15517 SwissProt:Q15517 CDSN corneodesmosin 9q34.13 BSSL MODY8 bile salt-stimulated lipase ClinVar:CEL Ensembl:ENSG00000170835 Genatlas:CEL HGNC:1848 IUPHAR:2872 OMIM:114840 Reactome:P19835 SwissProt:P19835 CEL carboxyl ester lipase 13q12.12-q12.13 BM032 CPAP LAG-3-associated protein LAP LIP1 SASS4 SCKL4 Sas-4 Seckel syndrome 4 Spindle assembly abnormal 4 centrosomal P4.1-associated protein ClinVar:CENPJ Ensembl:ENSG00000151849 Genatlas:CENPJ HGNC:17272 OMIM:609279 Reactome:Q9HC77 SwissProt:Q9HC77 CPAP centrosome assembly and centriole elongation protein 12q21.32 3H11Ag BBS14 Bardet-Biedl syndrome 14 CT87 FLJ13615 JBTS5 Joubert syndrome 5 KIAA0373 LCA10 MKS4 Meckel syndrome, type 4 NPHP6 POC3 POC3 centriolar protein homolog (Chlamydomonas) SLSN6 cancer/testis antigen 87 nephrocystin-6 rd16 ClinVar:CEP290 Ensembl:ENSG00000198707 Genatlas:CEP290 HGNC:29021 OMIM:610142 Reactome:O15078 SwissProt:O15078 CEP290 centrosomal protein 290 2q31.3 ClinVar:CERKL Ensembl:ENSG00000188452 Genatlas:CERKL HGNC:21699 OMIM:608381 SwissProt:Q49MI3 CERKL CERK like autophagy regulator 16q13 BPI fold containing family F BPIFF ClinVar:CETP Ensembl:ENSG00000087237 Genatlas:CETP HGNC:1869 IUPHAR:3248 OMIM:118470 Reactome:P11597 SwissProt:P11597 CETP cholesteryl ester transfer protein 2q21.1 CRYPTIC ClinVar:CFC1 Ensembl:ENSG00000136698 Genatlas:CFC1 HGNC:18292 OMIM:605194 Reactome:P0CG37 SwissProt:P0CG37 CFC1 cryptic, EGF-CFC family member 1 1q31.3 ARMD4 ARMS1 FHL1 H factor 2 (complement) HUS age-related maculopathy susceptibility 1 beta-1H ClinVar:CFH Ensembl:ENSG00000000971 Genatlas:CFH HGNC:4883 OMIM:134370 Reactome:P08603 SwissProt:P08603 CFH complement factor H 4q25 C3b-INA C3b-inactivator FI KAF Konglutinogen-activating factor ClinVar:CFI Ensembl:ENSG00000205403 Genatlas:CFI HGNC:5394 OMIM:217030 Reactome:P05156 SwissProt:P05156 CFI complement factor I 14q13.1 NEM7 nemaline myopathy type 7 ClinVar:CFL2 Ensembl:ENSG00000165410 Genatlas:CFL2 HGNC:1875 OMIM:601443 Reactome:Q9Y281 SwissProt:Q9Y281 CFL2 cofilin 2 Xp11.23 ClinVar:CFP Ensembl:ENSG00000126759 Genatlas:CFP HGNC:8864 OMIM:300383 Reactome:P27918 SwissProt:P27918 CFP complement factor properdin 7q31.2 ABC35 ATP-binding cassette sub-family C, member 7 CFTR/MRP MRP7 TNR-CFTR dJ760C5.1 ClinVar:CFTR Ensembl:ENSG00000001626 Genatlas:CFTR HGNC:1884 IUPHAR:707 OMIM:602421 Reactome:P13569 SwissProt:P13569 CFTR CF transmembrane conductance regulator 10q11.23 CHOACTase ClinVar:CHAT Ensembl:ENSG00000070748 Genatlas:CHAT HGNC:1912 IUPHAR:2480 OMIM:118490 Reactome:P28329 SwissProt:P28329 CHAT choline O-acetyltransferase 8q12.2 FLJ20357 FLJ20361 KIAA1416 ClinVar:CHD7 Ensembl:ENSG00000171316 Genatlas:CHD7 HGNC:20626 OMIM:608892 SwissProt:Q9P2D1 CHD7 chromodomain helicase DNA binding protein 7 22q12.1 CDS1 CHK2 HuCds1 PP1425 bA444G7 ClinVar:CHEK2 Ensembl:ENSG00000183765 Genatlas:CHEK2 HGNC:16627 IUPHAR:1988 OMIM:604373 Reactome:O96017 SwissProt:O96017 CHEK2 checkpoint kinase 2 Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency Mitochondrial encephalo-cardio-myopathy due to <i>TMEM70</i> mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. Orphanet ICD-10:G71.3 ICD-11:5C53.2Y MONDO:0013546 OMIM:614052 UMLS:C4273660 Autosomal recessive Infancy Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1194 TMEM70-related mitochondrial encephalo-cardio-myopathy ORPHA:1194 ICD-10:G71.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.2Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0013546 E (Exact mapping: the two concepts are equivalent) OMIM:614052 E (Exact mapping: the two concepts are equivalent) UMLS:C4273660 E (Exact mapping: the two concepts are equivalent) Xq21.2 REP-1 Rab escort protein 1 Rab proteins geranylgeranyltransferase component A 1 ClinVar:CHM Ensembl:ENSG00000188419 Genatlas:CHM HGNC:1940 OMIM:300390 Reactome:P24386 SwissProt:P24386 CHM CHM Rab escort protein 3p11.2 CHMP2.5 DKFZP564O123 VPS2 homolog B (S. cerevisiae) VPS2B ClinVar:CHMP2B Ensembl:ENSG00000083937 Genatlas:CHMP2B HGNC:24537 OMIM:609512 Reactome:Q9UQN3 SwissProt:Q9UQN3 CHMP2B charged multivesicular body protein 2B 2q31.1 acetylcholine receptor, nicotinic, alpha 1 (muscle) ClinVar:CHRNA1 Ensembl:ENSG00000138435 Genatlas:CHRNA1 HGNC:1955 IUPHAR:462 OMIM:100690 Reactome:P02708 SwissProt:P02708 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit 20q13.33 BFNC acetylcholine receptor, nicotinic, alpha 4 (neuronal) ClinVar:CHRNA4 Ensembl:ENSG00000101204 Genatlas:CHRNA4 HGNC:1958 IUPHAR:465 OMIM:118504 Reactome:P43681 SwissProt:P43681 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit 17p13.1 acetylcholine receptor, nicotinic, beta 1 (muscle) ClinVar:CHRNB1 Ensembl:ENSG00000170175 Genatlas:CHRNB1 HGNC:1961 IUPHAR:471 OMIM:100710 SwissProt:P11230 CHRNB1 cholinergic receptor nicotinic beta 1 subunit 2q37.1 acetylcholine receptor, nicotinic, delta (muscle) ClinVar:CHRND Ensembl:ENSG00000135902 Genatlas:CHRND HGNC:1965 IUPHAR:476 OMIM:100720 Reactome:Q07001 SwissProt:Q07001 CHRND cholinergic receptor nicotinic delta subunit 17p13.2 ACHRE acetylcholine receptor, nicotinic, epsilon (muscle) ClinVar:CHRNE Ensembl:ENSG00000108556 Genatlas:CHRNE HGNC:1966 IUPHAR:477 OMIM:100725 Reactome:Q04844 SwissProt:Q04844 CHRNE cholinergic receptor nicotinic epsilon subunit 2q37.1 acetylcholine receptor, nicotinic, gamma (muscle) ClinVar:CHRNG Ensembl:ENSG00000196811 Genatlas:CHRNG HGNC:1967 IUPHAR:475 OMIM:100730 Reactome:P07510 SwissProt:P07510 CHRNG cholinergic receptor nicotinic gamma subunit 10q22.1 C6ST C6ST1 chondroitin 6 sulfotransferase 1 ClinVar:CHST3 Ensembl:ENSG00000122863 Genatlas:CHST3 HGNC:1971 OMIM:603799 Reactome:Q7LGC8 SwissProt:Q7LGC8 CHST3 carbohydrate sulfotransferase 3 16q23.1 ClinVar:CHST6 Ensembl:ENSG00000183196 Genatlas:CHST6 HGNC:6938 OMIM:605294 Reactome:Q9GZX3 SwissProt:Q9GZX3 CHST6 carbohydrate sulfotransferase 6 16p13.13 C2TA NLR family, acid domain containing NLRA nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing ClinVar:CIITA Ensembl:ENSG00000179583 Genatlas:CIITA HGNC:7067 IUPHAR:1767 OMIM:600005 Reactome:P33076 SwissProt:P33076 CIITA class II major histocompatibility complex transactivator 7q34 CLC1 ClC-1 Thomsen disease, autosomal dominant ClinVar:CLCN1 Ensembl:ENSG00000188037 Genatlas:CLCN1 HGNC:2019 IUPHAR:698 OMIM:118425 Reactome:P35523 SwissProt:P35523 CLCN1 chloride voltage-gated channel 1 Xp11.23 CLC5 ClC-5 DENTS Dent disease XLRH XRN hCIC-K2 hClC-K2 ClinVar:CLCN5 Ensembl:ENSG00000171365 Genatlas:CLCN5 HGNC:2023 IUPHAR:704 OMIM:300008 Reactome:P51795 SwissProt:P51795 CLCN5 chloride voltage-gated channel 5 16p13.3 CLC-7 CLC7 ClC-7 OPTA2 PPP1R63 protein phosphatase 1, regulatory subunit 63 ClinVar:CLCN7 Ensembl:ENSG00000103249 Genatlas:CLCN7 HGNC:2025 IUPHAR:706 OMIM:602727 Reactome:P51798 SwissProt:P51798 CLCN7 chloride voltage-gated channel 7 1p36.13 CLCKB Chloride channel protein ClC-Kb ClC-K2 ClC-Kb hClC-Kb ClinVar:CLCNKB Ensembl:ENSG00000184908 Genatlas:CLCNKB HGNC:2027 IUPHAR:701 OMIM:602023 Reactome:P51801 SwissProt:P51801 CLCNKB chloride voltage-gated channel Kb 3q28 ILVASC SEMP1 senescence-associated epithelial membrane protein 1 ClinVar:CLDN1 Ensembl:ENSG00000163347 Genatlas:CLDN1 HGNC:2032 OMIM:603718 Reactome:O95832 SwissProt:O95832 CLDN1 claudin 1 11q23.3 G6PT GSD1b GSD1c GSD1d Glucose-6-phosphate exchanger SLC37A4 SPX4 glucose-6-phosphatase transporter sugar-phosphate exchange protein 4 ClinVar:SLC37A4 Ensembl:ENSG00000137700 Genatlas:SLC37A4 HGNC:4061 IUPHAR:1168 OMIM:602671 Reactome:O43826 SwissProt:O43826 SLC37A4 solute carrier family 37 member 4 8q24.3 AWMS2 ZIP-4 ZIP4 ZRT/IRT-like protein 4 Zinc transporter ZIP4 zinc transporter 4 ClinVar:SLC39A4 Ensembl:ENSG00000147804 Genatlas:SLC39A4 HGNC:17129 IUPHAR:1183 OMIM:607059 Reactome:Q6P5W5 SwissProt:Q6P5W5 SLC39A4 solute carrier family 39 member 4 2q32.2 FPN FPN1 HFE4 IREG1 MTP1 SLC40 iron transporter ferroportin 1 iron regulated gene 1 ClinVar:SLC40A1 Ensembl:ENSG00000138449 Genatlas:SLC40A1 HGNC:10909 IUPHAR:1194 OMIM:604653 Reactome:Q9NP59 SwissProt:Q9NP59 SLC40A1 solute carrier family 40 member 1 Congenital hypotransferrinemia Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated. Orphanet ICD-10:E88.0 ICD-11:5D0Y MONDO:0008846 MeSH:C538259 MedDRA:10083911 OMIM:209300 UMLS:C0521802 Autosomal recessive Childhood Infancy Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1195 Congenital atransferrinemia ORPHA:1195 ICD-10:E88.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:5D0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008846 E (Exact mapping: the two concepts are equivalent) MeSH:C538259 E (Exact mapping: the two concepts are equivalent) MedDRA:10083911 E (Exact mapping: the two concepts are equivalent) OMIM:209300 E (Exact mapping: the two concepts are equivalent) UMLS:C0521802 E (Exact mapping: the two concepts are equivalent) 1q21.3 ADAR1 DRADA Double-stranded RNA-specific adenosine deaminase ClinVar:ADAR Ensembl:ENSG00000160710 Genatlas:ADAR HGNC:225 OMIM:146920 Reactome:P55265 SwissProt:P55265 ADAR adenosine deaminase RNA specific 22q13.1 ClinVar:ADSL Ensembl:ENSG00000239900 Genatlas:ADSL HGNC:291 OMIM:608222 Reactome:P30566 SwissProt:P30566 ADSL adenylosuccinate lyase Xq28 FRAXE ClinVar:AFF2 Ensembl:ENSG00000155966 Genatlas:AFF2 HGNC:3776 OMIM:300806 SwissProt:P51816 AFF2 ALF transcription elongation factor 2 4q34.3 ASRG N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase glycosylasparaginase ClinVar:AGA Ensembl:ENSG00000038002 Genatlas:AGA HGNC:318 OMIM:613228 Reactome:P20933 SwissProt:P20933 AGA aspartylglucosaminidase 5q13.3 FLJ10283 GPATC7 GPATCH7 HSU84971 VG5Q ClinVar:AGGF1 Ensembl:ENSG00000164252 Genatlas:AGGF1 HGNC:24684 OMIM:608464 Reactome:Q8N302 SwissProt:Q8N302 AGGF1 angiogenic factor with G-patch and FHA domains 1 1p21.2 GDE glycogen debranching enzyme glycogen storage disease type III ClinVar:AGL Ensembl:ENSG00000162688 Genatlas:AGL HGNC:321 OMIM:610860 Reactome:P35573 SwissProt:P35573 AGL amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase 9q34.3 1-acyl-sn-glycerol-3-phosphate acyltransferase beta LPAAT-beta LPLAT2 lysophosphatidic acid acyltransferase, beta lysophosphatidic acid acyltransferase-beta lysophospholipid acyltransferase 2 ClinVar:AGPAT2 Ensembl:ENSG00000169692 Genatlas:AGPAT2 HGNC:325 OMIM:603100 Reactome:O15120 SwissProt:O15120 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 2q31.2 ADAP-S ADAS ADHAPS ADPS ALDHPSY Alkyldihydroxyacetonephosphate synthase, peroxisomal ClinVar:AGPS Ensembl:ENSG00000018510 Genatlas:AGPS HGNC:327 OMIM:603051 Reactome:O00116 SwissProt:O00116 AGPS alkylglycerone phosphate synthase 1q42.2 alpha-1 antiproteinase, antitrypsin ClinVar:AGT Ensembl:ENSG00000135744 Genatlas:AGT HGNC:333 OMIM:106150 Reactome:P01019 SwissProt:P01019 AGT angiotensinogen 2q37.3 AGT AGT1 AGXT1 L-alanine: glyoxylate aminotransferase 1 PH1 SPT Ser-PyrAT TLH6 glycolicaciduria oxalosis I primary hyperoxaluria type 1 serine:pyruvate aminotransferase ClinVar:AGXT Ensembl:ENSG00000172482 Genatlas:AGXT HGNC:341 OMIM:604285 Reactome:P21549 SwissProt:P21549 AGXT alanine--glyoxylate aminotransferase 20q11.22 AdoHcyase SAHH ClinVar:AHCY Ensembl:ENSG00000101444 Genatlas:AHCY HGNC:343 IUPHAR:1233 OMIM:180960 Reactome:P23526 SwissProt:P23526 AHCY adenosylhomocysteinase 6q23.3 FLJ20069 JBTS3 Jouberin ORF1 ClinVar:AHI1 Ensembl:ENSG00000135541 Genatlas:AHI1 HGNC:21575 OMIM:608894 Reactome:Q8N157 SwissProt:Q8N157 AHI1 Abelson helper integration site 1 12p13.31 AID ARP2 CDA2 HIGM2 ClinVar:AICDA Ensembl:ENSG00000111732 Genatlas:AICDA HGNC:13203 OMIM:605257 Reactome:Q9GZX7 SwissProt:Q9GZX7 AICDA activation induced cytidine deaminase 17p13.2 ClinVar:AIPL1 Ensembl:ENSG00000129221 Genatlas:AIPL1 HGNC:359 OMIM:604392 Reactome:Q9NZN9 SwissProt:Q9NZN9 AIPL1 AIP like 1 HSP90 co-chaperone 21q22.3 APS1 PGA1 autoimmune polyendocrinopathy candidiasis ectodermal dystrophy ClinVar:AIRE Ensembl:ENSG00000160224 Genatlas:AIRE HGNC:360 OMIM:607358 Reactome:O43918 SwissProt:O43918 AIRE autoimmune regulator 9q34.11 ADK Adk1 ClinVar:AK1 Ensembl:ENSG00000106992 Genatlas:AK1 HGNC:361 OMIM:103000 Reactome:P00568 SwissProt:P00568 AK1 adenylate kinase 1 9q32 ALADH PBGS porphobilinogen synthase ClinVar:ALAD Ensembl:ENSG00000148218 Genatlas:ALAD HGNC:395 OMIM:125270 Reactome:P13716 SwissProt:P13716 ALAD aminolevulinate dehydratase Xp11.21 ALAS-E erythroid-specific delta-aminolevulinate synthase sideroblastic/hypochromic anemia ClinVar:ALAS2 Ensembl:ENSG00000158578 Genatlas:ALAS2 HGNC:397 OMIM:301300 Reactome:P22557 SwissProt:P22557 ALAS2 5'-aminolevulinate synthase 2 4q13.3 ClinVar:ALB Ensembl:ENSG00000163631 Genatlas:ALB HGNC:399 OMIM:103600 Reactome:P02768 SwissProt:P02768 ALB albumin 10q24.1 P5CS delta-1-pyrroline-5-carboxylate synthase ClinVar:ALDH18A1 Ensembl:ENSG00000059573 Genatlas:ALDH18A1 HGNC:9722 OMIM:138250 Reactome:P54886 SwissProt:P54886 ALDH18A1 aldehyde dehydrogenase 18 family member A1 17p11.2 FALDH fatty aldehyde dehydrogenase ClinVar:ALDH3A2 Ensembl:ENSG00000072210 Genatlas:ALDH3A2 HGNC:403 OMIM:609523 Reactome:P51648 SwissProt:P51648 ALDH3A2 aldehyde dehydrogenase 3 family member A2 1p36.13 Delta-1-pyrroline-5-carboxylate dehydrogenase L-glutamate gamma-semialdehyde dehydrogenase P5CDh ClinVar:ALDH4A1 Ensembl:ENSG00000159423 Genatlas:ALDH4A1 HGNC:406 OMIM:606811 Reactome:P30038 SwissProt:P30038 ALDH4A1 aldehyde dehydrogenase 4 family member A1 6p22.3 SSADH SSDH succinate-semialdehyde dehydrogenase ClinVar:ALDH5A1 Ensembl:ENSG00000112294 Genatlas:ALDH5A1 HGNC:408 IUPHAR:2466 OMIM:610045 Reactome:P51649 SwissProt:P51649 ALDH5A1 aldehyde dehydrogenase 5 family member A1 5q23.2 26g turgor protein homolog EPD P6c dehydrogenase PDE alpha-AASA dehydrogenase alpha-aminoadipic semialdehyde dehydrogenase antiquitin 1 delta1-piperideine-6-carboxylate dehydrogenease ClinVar:ALDH7A1 Ensembl:ENSG00000164904 Genatlas:ALDH7A1 HGNC:877 OMIM:107323 Reactome:P49419 SwissProt:P49419 ALDH7A1 aldehyde dehydrogenase 7 family member A1 16p11.2 ClinVar:ALDOA Ensembl:ENSG00000149925 Genatlas:ALDOA HGNC:414 OMIM:103850 Reactome:P04075 SwissProt:P04075 ALDOA aldolase, fructose-bisphosphate A 9q31.1 ClinVar:ALDOB Ensembl:ENSG00000136872 Genatlas:ALDOB HGNC:417 OMIM:612724 Reactome:P05062 SwissProt:P05062 ALDOB aldolase, fructose-bisphosphate B 16p13.3 CDG1K HMAT1 HMT-1 Mat-1 ClinVar:ALG1 Ensembl:ENSG00000033011 Genatlas:ALG1 HGNC:18294 OMIM:605907 Reactome:Q9BT22 SwissProt:Q9BT22 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 22q13.33 CDG1G ECM39 dol-P-Man dependent alpha-1,6-mannosyltransferase dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase ClinVar:ALG12 Ensembl:ENSG00000182858 Genatlas:ALG12 HGNC:19358 OMIM:607144 Reactome:Q9BV10 SwissProt:Q9BV10 ALG12 ALG12 alpha-1,6-mannosyltransferase 9q22.33 CDG1I CDGIi FLJ14511 NET38 hALPG2 ClinVar:ALG2 Ensembl:ENSG00000119523 Genatlas:ALG2 HGNC:23159 OMIM:607905 Reactome:Q9H553 SwissProt:Q9H553 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase 3q27.1 CDGS4 D16Ertd36e NOT56L Not56 carbohydrate deficient glycoprotein syndrome type IV dol-P-Man dependent alpha-1,3- mannosyltransferase dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase ClinVar:ALG3 Ensembl:ENSG00000214160 Genatlas:ALG3 HGNC:23056 OMIM:608750 Reactome:Q92685 SwissProt:Q92685 ALG3 ALG3 alpha-1,3- mannosyltransferase 1p31.3 dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase ClinVar:ALG6 Ensembl:ENSG00000088035 Genatlas:ALG6 HGNC:23157 OMIM:604566 Reactome:Q9Y672 SwissProt:Q9Y672 ALG6 ALG6 alpha-1,3-glucosyltransferase 11q14.1 MGC2840 dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase ClinVar:ALG8 Ensembl:ENSG00000159063 Genatlas:ALG8 HGNC:23161 OMIM:608103 Reactome:Q9BVK2 SwissProt:Q9BVK2 ALG8 ALG8 alpha-1,3-glucosyltransferase 11q23.1 dol-P-Man dependent alpha-1,2-mannosyltransferase dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase ClinVar:ALG9 Ensembl:ENSG00000086848 Genatlas:ALG9 HGNC:15672 OMIM:606941 Reactome:Q9H6U8 SwissProt:Q9H6U8 ALG9 ALG9 alpha-1,2-mannosyltransferase 2p13.1 KIAA0328 ClinVar:ALMS1 Ensembl:ENSG00000116127 Genatlas:ALMS1 HGNC:428 OMIM:606844 Reactome:Q8TCU4 SwissProt:Q8TCU4 ALMS1 ALMS1 centrosome and basal body associated protein 17p13.1 12R-LOX 12R-lipoxygenase ClinVar:ALOX12B Ensembl:ENSG00000179477 Genatlas:ALOX12B HGNC:430 IUPHAR:1386 OMIM:603741 Reactome:O75342 SwissProt:O75342 ALOX12B arachidonate 12-lipoxygenase, 12R type 17p13.1 E-LOX Epidermal lipoxygenase-3 eLOX3 hydroperoxide isomerase hydroperoxy icosatetraenoate dehydratase hydroperoxy icosatetraenoate isomerase ClinVar:ALOXE3 Ensembl:ENSG00000179148 Genatlas:ALOXE3 HGNC:13743 IUPHAR:1390 OMIM:607206 Reactome:Q9BYJ1 SwissProt:Q9BYJ1 ALOXE3 arachidonate epidermal lipoxygenase 3 1p36.12 TNALP TNAP TNSALP tissue non-specific alkaline phosphatase ClinVar:ALPL Ensembl:ENSG00000162551 Genatlas:ALPL HGNC:438 OMIM:171760 Reactome:P05186 SwissProt:P05186 ALPL alkaline phosphatase, biomineralization associated 2q33.1 alsin ClinVar:ALS2 Ensembl:ENSG00000003393 Genatlas:ALS2 HGNC:443 OMIM:606352 Reactome:Q96Q42 SwissProt:Q96Q42 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 11p11.2 FPP KIAA1788 PFM ClinVar:ALX4 Ensembl:ENSG00000052850 Genatlas:ALX4 HGNC:450 OMIM:605420 SwissProt:Q9H161 ALX4 ALX homeobox 4 Xp22.2 amelogenesis imperfecta 1 ClinVar:AMELX Ensembl:ENSG00000125363 Genatlas:AMELX HGNC:461 OMIM:300391 Reactome:Q99217 SwissProt:Q99217 AMELX amelogenin X-linked 19p13.3 MIF MIS Muellerian-inhibiting factor Muellerian-inhibiting substance ClinVar:AMH Ensembl:ENSG00000104899 Genatlas:AMH HGNC:464 OMIM:600957 Reactome:P03971 SwissProt:P03971 AMH anti-Mullerian hormone 12q13.13 MISR2 MISRII Muellerian inhibiting substance type II receptor ClinVar:AMHR2 Ensembl:ENSG00000135409 Genatlas:AMHR2 HGNC:465 IUPHAR:1793 OMIM:600956 Reactome:Q16671 SwissProt:Q16671 AMHR2 anti-Mullerian hormone receptor type 2 Xq23 ClinVar:AMMECR1 Ensembl:ENSG00000101935 Genatlas:AMMECR1 HGNC:467 OMIM:300195 Reactome:Q9Y4X0 SwissProt:Q9Y4X0 AMMECR1 AMMECR nuclear protein 1 5p13.2 AIM-1 OCA4 antigen in melanoma 1 oculocutaneous albinism type 4 ClinVar:SLC45A2 Ensembl:ENSG00000164175 Genatlas:SLC45A2 HGNC:16472 IUPHAR:1210 OMIM:606202 Reactome:Q9UMX9 SwissProt:Q9UMX9 SLC45A2 solute carrier family 45 member 2 17q21.31 Band 3 anion transport protein CD233 EMPB3 FR Froese blood group RTA1A SW Swann blood group WR Wright blood group ClinVar:SLC4A1 Ensembl:ENSG00000004939 Genatlas:SLC4A1 HGNC:11027 IUPHAR:904 OMIM:109270 Reactome:P02730 SwissProt:P02730 SLC4A1 solute carrier family 4 member 1 (Diego blood group) 20p13 BTR1 FECD4 NaBC1 bicarbonate transporter related protein 1 dJ794I6.2 sodium-coupled borate cotransporter 1 ClinVar:SLC4A11 Ensembl:ENSG00000088836 Genatlas:SLC4A11 HGNC:16438 IUPHAR:913 OMIM:610206 SwissProt:Q8NBS3 SLC4A11 solute carrier family 4 member 11 4q13.3 Electrogenic sodium bicarbonate cotransporter 1 HNBC1 KNBC NBC1 NBC2 NBCe1 hhNMC kNBC1 kidney type Na+/HCO3- cotransporter pNBC pancreatic sodium bicarbonate cotransporter ClinVar:SLC4A4 Ensembl:ENSG00000080493 Genatlas:SLC4A4 HGNC:11030 IUPHAR:908 OMIM:603345 Reactome:Q9Y6R1 SwissProt:Q9Y6R1 SLC4A4 solute carrier family 4 member 4 22q12.3 D22S675 NAGT SGLT-1 sodium/glucose cotransporter 1 ClinVar:SLC5A1 Ensembl:ENSG00000100170 Genatlas:SLC5A1 HGNC:11036 IUPHAR:915 OMIM:182380 Reactome:P13866 SwissProt:P13866 SLC5A1 solute carrier family 5 member 1 16p11.2 ClinVar:SLC5A2 Ensembl:ENSG00000140675 Genatlas:SLC5A2 HGNC:11037 IUPHAR:916 OMIM:182381 Reactome:P31639 SwissProt:P31639 SLC5A2 solute carrier family 5 member 2 19p13.11 NIS sodium iodide symporter ClinVar:SLC5A5 Ensembl:ENSG00000105641 Genatlas:SLC5A5 HGNC:11040 IUPHAR:920 OMIM:601843 Reactome:Q92911 SwissProt:Q92911 SLC5A5 solute carrier family 5 member 5 5p15.33 B0AT1 Hartnup disease Sodium-dependent neutral amino acid transporter B(0)AT1 broad neutral amino acid transporter 1 ClinVar:SLC6A19 Ensembl:ENSG00000174358 Genatlas:SLC6A19 HGNC:27960 IUPHAR:939 OMIM:608893 Reactome:Q695T7 SwissProt:Q695T7 SLC6A19 solute carrier family 6 member 19 Xq28 CRT CRT-1 CRT1 CRTR CT1 Sodium- and chloride-dependent creatine transporter 1 creatine transporter ClinVar:SLC6A8 Ensembl:ENSG00000130821 Genatlas:SLC6A8 HGNC:11055 IUPHAR:934 OMIM:300036 Reactome:P48029 SwissProt:P48029 SLC6A8 solute carrier family 6 member 8 14q11.2 Y+L amino acid transporter 1 Y+LAT1 y+LAT-1 ClinVar:SLC7A7 Ensembl:ENSG00000155465 Genatlas:SLC7A7 HGNC:11065 IUPHAR:898 OMIM:603593 Reactome:Q9UM01 SwissProt:Q9UM01 SLC7A7 solute carrier family 7 member 7 19q13.11 BAT1 b(0,+)-type amino acid transporter 1 ClinVar:SLC7A9 Ensembl:ENSG00000021488 Genatlas:SLC7A9 HGNC:11067 IUPHAR:900 OMIM:604144 Reactome:P82251 SwissProt:P82251 SLC7A9 solute carrier family 7 member 9 8q24.3 ANUP ARS ARS component B ArsB LY6-MT LY6LS MDM lymphocyte antigen 6-like secreted ClinVar:SLURP1 Ensembl:ENSG00000126233 Genatlas:SLURP1 HGNC:18746 OMIM:606119 SwissProt:P55000 SLURP1 secreted LY6/PLAUR domain containing 1 18q21.2 DPC4 ClinVar:SMAD4 Ensembl:ENSG00000141646 Genatlas:SMAD4 HGNC:6770 OMIM:600993 Reactome:Q13485 SwissProt:Q13485 SMAD4 SMAD family member 4 2q35 ATP-driven annealing helicase HARP HHARP HepA-related protein ClinVar:SMARCAL1 Ensembl:ENSG00000138375 Genatlas:SMARCAL1 HGNC:11102 OMIM:606622 SwissProt:Q9NZC9 SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 22q11.23 BAF47 INI-1 Ini1 PPP1R144 RDT SNF5 Sfh1p Snr1 hSNFS integrase interactor 1 malignant rhabdoid tumor suppressor protein phosphatase 1, regulatory subunit 144 sucrose nonfermenting, yeast, homolog-like 1 ClinVar:SMARCB1 Ensembl:ENSG00000099956 Genatlas:SMARCB1 HGNC:11103 OMIM:601607 Reactome:Q12824 SwissProt:Q12824 SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 Xp11.22 DXS423E KIAA0178 SB1.8 Smcb ClinVar:SMC1A Ensembl:ENSG00000072501 Genatlas:SMC1A HGNC:11111 OMIM:300040 Reactome:Q14683 SwissProt:Q14683 SMC1A structural maintenance of chromosomes 1A 5q13.2 BCD541 GEMIN1 SMNC TDRD16B tudor domain containing 16B ClinVar:SMN2 Ensembl:ENSG00000205571 Genatlas:SMN2 HGNC:11118 OMIM:601627 Reactome:Q16637 SwissProt:Q16637 SMN2 survival of motor neuron 2, centromeric 11p15.4 ASM Niemann-Pick type A/B acid sphingomyelinase ClinVar:SMPD1 Ensembl:ENSG00000166311 Genatlas:SMPD1 HGNC:11120 IUPHAR:2514 OMIM:607608 Reactome:P17405 SwissProt:P17405 SMPD1 sphingomyelin phosphodiesterase 1 8q11.21 SLUGH SLUGH1 SNAIL2 ClinVar:SNAI2 Ensembl:ENSG00000019549 Genatlas:SNAI2 HGNC:11094 OMIM:602150 Reactome:O43623 SwissProt:O43623 SNAI2 snail family transcriptional repressor 2 22q11.21 CEDNIK SNAP-29 cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome soluble 29 kDa NSF attachment protein ClinVar:SNAP29 Ensembl:ENSG00000099940 Genatlas:SNAP29 HGNC:11133 OMIM:604202 Reactome:O95721 SwissProt:O95721 SNAP29 synaptosome associated protein 29 4q22.1 NACP PD1 a-synuclein alpha-synuclein non A4 component of amyloid precursor ClinVar:SNCA Ensembl:ENSG00000145335 Genatlas:SNCA HGNC:11138 IUPHAR:3285 OMIM:163890 Reactome:P37840 SwissProt:P37840 SNCA synuclein alpha 15q11.2 HCERN3 RT-LI SM protein N SM-D SMN SNRNP-N SNURF-SNRPN small nuclear ribonucleoprotein N tissue-specific splicing protein ClinVar:SNRPN Ensembl:ENSG00000128739 Genatlas:SNRPN HGNC:11164 OMIM:182279 Reactome:P63162 SwissProt:P63162 SNRPN small nuclear ribonucleoprotein polypeptide N 21q22.11 IPOA ClinVar:SOD1 Ensembl:ENSG00000142168 Genatlas:SOD1 HGNC:11179 OMIM:147450 Reactome:P00441 SwissProt:P00441 SOD1 superoxide dismutase 1 2p22.1 GF1 HGF ClinVar:SOS1 Ensembl:ENSG00000115904 Genatlas:SOS1 HGNC:11187 IUPHAR:3096 OMIM:182530 Reactome:Q07889 SwissProt:Q07889 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 22q13.1 DOM SOX-10 WS2E WS4 dominant megacolon, mouse, human homolog of ClinVar:SOX10 Ensembl:ENSG00000100146 Genatlas:SOX10 HGNC:11190 OMIM:602229 Reactome:P56693 SwissProt:P56693 SOX10 SRY-box transcription factor 10 20q13.33 ClinVar:SOX18 Ensembl:ENSG00000203883 Genatlas:SOX18 HGNC:11194 OMIM:601618 SwissProt:P35713 SOX18 SRY-box transcription factor 18 3q26.33 ClinVar:SOX2 Ensembl:ENSG00000181449 Genatlas:SOX2 HGNC:11195 OMIM:184429 Reactome:P48431 SwissProt:P48431 SOX2 SRY-box transcription factor 2 17q24.3 SRA1 ClinVar:SOX9 Ensembl:ENSG00000125398 Genatlas:SOX9 HGNC:11204 OMIM:608160 Reactome:P48436 SwissProt:P48436 SOX9 SRY-box transcription factor 9 2q37.1 ClinVar:SP110 Ensembl:ENSG00000135899 Genatlas:SP110 HGNC:5401 IUPHAR:2778 OMIM:604457 SwissProt:Q9HB58 SP110 SP110 nuclear body protein Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns. Orphanet ICD-10:Q42.9 ICD-11:LB16.0 MONDO:0010562 MeSH:C562562 OMIM:303650 UMLS:C0266190 Not applicable Antenatal Neonatal Europe AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1198 Colonic atresia ORPHA:1198 ICD-10:Q42.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LB16.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0010562 E (Exact mapping: the two concepts are equivalent) MeSH:C562562 E (Exact mapping: the two concepts are equivalent) OMIM:303650 E (Exact mapping: the two concepts are equivalent) UMLS:C0266190 E (Exact mapping: the two concepts are equivalent) 2p22.3 ADPSP FSP2 KIAA1083 ClinVar:SPAST Ensembl:ENSG00000021574 Genatlas:SPAST HGNC:11233 OMIM:604277 SwissProt:Q9UBP0 SPAST spastin 15q21.1 FLJ21439 spatacsin ClinVar:SPG11 Ensembl:ENSG00000104133 Genatlas:SPG11 HGNC:11226 OMIM:610844 SwissProt:Q96JI7 SPG11 SPG11 vesicle trafficking associated, spatacsin 13q13.3 KIAA0610 TAHCCP1 ClinVar:SPG20 Ensembl:ENSG00000133104 Genatlas:SPG20 HGNC:18514 OMIM:607111 Reactome:Q8N0X7 SwissProt:Q8N0X7 SPART spartin 15q22.31 ABHD21 ACP33 BM-019 GL010 MAST ClinVar:SPG21 Ensembl:ENSG00000090487 Genatlas:SPG21 HGNC:20373 OMIM:608181 Reactome:Q9NZD8 SwissProt:Q9NZD8 SPG21 SPG21 abhydrolase domain containing, maspardin 14q22.1 AD-FSP FSP1 atlastin ClinVar:ATL1 Ensembl:ENSG00000198513 Genatlas:ATL1 HGNC:11231 OMIM:606439 Reactome:Q8WXF7 SwissProt:Q8WXF7 ATL1 atlastin GTPase 1 16q24.3 CAR SPG5C paraplegin ClinVar:SPG7 Ensembl:ENSG00000197912 Genatlas:SPG7 HGNC:11237 OMIM:602783 Reactome:Q9UQ90 SwissProt:Q9UQ90 SPG7 SPG7 matrix AAA peptidase subunit, paraplegin 5q32 PCTT PSTI Spink3 TATI ClinVar:SPINK1 Ensembl:ENSG00000164266 Genatlas:SPINK1 HGNC:11244 OMIM:167790 SwissProt:P00995 SPINK1 serine peptidase inhibitor Kazal type 1 5q32 DKFZp686K19184 FLJ21544 FLJ97536 FLJ97596 FLJ99794 LEKTI LETKI NETS NS VAKTI lymphoepithelial Kazal-type-related inhibitor ClinVar:SPINK5 Ensembl:ENSG00000133710 Genatlas:SPINK5 HGNC:15464 OMIM:605010 Reactome:Q9NQ38 SwissProt:Q9NQ38 SPINK5 serine peptidase inhibitor Kazal type 5 2p13.2 SDR38C1 Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming) short chain dehydrogenase/reductase family 38C, member 1 ClinVar:SPR Ensembl:ENSG00000116096 Genatlas:SPR HGNC:11257 IUPHAR:3020 OMIM:182125 Reactome:P35270 SwissProt:P35270 SPR sepiapterin reductase 1q23.1 EL2 elliptocytosis 2 ClinVar:SPTA1 Ensembl:ENSG00000163554 Genatlas:SPTA1 HGNC:11272 OMIM:182860 Reactome:P02549 SwissProt:P02549 SPTA1 spectrin alpha, erythrocytic 1 14q23.3 spherocytosis, clinical type I ClinVar:SPTB Ensembl:ENSG00000070182 Genatlas:SPTB HGNC:11274 OMIM:182870 Reactome:P11277 SwissProt:P11277 SPTB spectrin beta, erythrocytic 11q13.2 ClinVar:SPTBN2 Ensembl:ENSG00000173898 Genatlas:SPTBN2 HGNC:11276 OMIM:604985 Reactome:O15020 SwissProt:O15020 SPTBN2 spectrin beta, non-erythrocytic 2 9q22.31 HSAN1 LCB1 SPTI hLCB1 ClinVar:SPTLC1 Ensembl:ENSG00000090054 Genatlas:SPTLC1 HGNC:11277 IUPHAR:2509 OMIM:605712 Reactome:O15269 SwissProt:O15269 SPTLC1 serine palmitoyltransferase long chain base subunit 1 2p23.1 3-oxo-5-alpha-steroid 4-dehydrogenase 2 ClinVar:SRD5A2 Ensembl:ENSG00000277893 Genatlas:SRD5A2 HGNC:11285 IUPHAR:2633 OMIM:607306 Reactome:P31213 SwissProt:P31213 SRD5A2 steroid 5 alpha-reductase 2 Xq22.1 SRPUL ClinVar:SRPX2 Ensembl:ENSG00000102359 Genatlas:SRPX2 HGNC:30668 OMIM:300642 SwissProt:O60687 SRPX2 sushi repeat containing protein X-linked 2 Yp11.2 TDF testis-determining factor ClinVar:SRY Ensembl:ENSG00000184895 Genatlas:SRY HGNC:11311 OMIM:480000 Reactome:Q05066 SwissProt:Q05066 SRY sex determining region Y 18q11.2 SMARCL1 SYT ClinVar:SS18 Ensembl:ENSG00000141380 Genatlas:SS18 HGNC:11340 OMIM:600192 SwissProt:Q15532 SS18 SS18 subunit of BAF chromatin remodeling complex Xp11.23 CT5.1 cancer/testis antigen family 5, member 1 ClinVar:SSX1 Ensembl:ENSG00000126752 Genatlas:SSX1 HGNC:11335 OMIM:312820 SwissProt:Q16384 SSX1 SSX family member 1 8p11.23 STARD1 StAR StAR related lipid transfer (START) domain containing 1 ClinVar:STAR Ensembl:ENSG00000147465 Genatlas:STAR HGNC:11359 OMIM:600617 Reactome:P49675 SwissProt:P49675 STAR steroidogenic acute regulatory protein 2q32.2 ISGF-3 STAT91 transcription factor ISGF-3 components p91/p84 ClinVar:STAT1 Ensembl:ENSG00000115415 Genatlas:STAT1 HGNC:11362 OMIM:600555 Reactome:P42224 SwissProt:P42224 STAT1 signal transducer and activator of transcription 1 17q21.2 ClinVar:STAT5B Ensembl:ENSG00000173757 Genatlas:STAT5B HGNC:11367 OMIM:604260 Reactome:P51692 SwissProt:P51692 STAT5B signal transducer and activator of transcription 5B 19p13.3 LKB1 PJS polarization-related protein LKB1 ClinVar:STK11 Ensembl:ENSG00000118046 Genatlas:STK11 HGNC:11389 IUPHAR:2212 OMIM:602216 Reactome:Q15831 SwissProt:Q15831 STK11 serine/threonine kinase 11 Xp22.31 ARSC arylsulfatase C steryl-sulfatase ClinVar:STS Ensembl:ENSG00000101846 Genatlas:STS HGNC:11425 OMIM:300747 Reactome:P08842 SwissProt:P08842 STS steroid sulfatase 6q24.2 ClinVar:STX11 Ensembl:ENSG00000135604 Genatlas:STX11 HGNC:11429 OMIM:605014 Reactome:O75558 SwissProt:O75558 STX11 syntaxin 11 13q14.2 succinate--CoA ligase (ADP-forming) ClinVar:SUCLA2 Ensembl:ENSG00000136143 Genatlas:SUCLA2 HGNC:11448 OMIM:603921 Reactome:Q9P2R7 SwissProt:Q9P2R7 SUCLA2 succinate-CoA ligase ADP-forming subunit beta 10q24.32 PRO1280 SUFUH SUFUXL ClinVar:SUFU Ensembl:ENSG00000107882 Genatlas:SUFU HGNC:16466 OMIM:607035 Reactome:Q9UMX1 SwissProt:Q9UMX1 SUFU SUFU negative regulator of hedgehog signaling 3p26.1 FGE UNQ3037 ClinVar:SUMF1 Ensembl:ENSG00000144455 Genatlas:SUMF1 HGNC:20376 OMIM:607939 Reactome:Q8NBK3 SwissProt:Q8NBK3 SUMF1 sulfatase modifying factor 1 CEA Congenital esophageal atresia EA/TEF Esophageal atresia with or without trachea-esophageal fistula Oesophageal atresia A rare congenital malformation characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress. Orphanet ICD-10:Q39.0 ICD-10:Q39.1 ICD-11:LB12.1 MeSH:D004933 MedDRA:10030146 OMIM:189960 UMLS:C0014850 Not applicable Neonatal Austria AND has_birth_prevalence_average_value : 19.5 AND has_birth_prevalence_range : 1-5 / 10 000 Belgium AND has_birth_prevalence_average_value : 17.5 AND has_birth_prevalence_range : 1-5 / 10 000 Croatia AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 42.5 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 24.3 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 11.8 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 23.8 AND has_birth_prevalence_range : 1-5 / 10 000 Hungary AND has_birth_prevalence_average_value : 26.6 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 10.8 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 18.4 AND has_birth_prevalence_range : 1-5 / 10 000 Malta AND has_birth_prevalence_average_value : 24.9 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 17.1 AND has_birth_prevalence_range : 1-5 / 10 000 Norway AND has_birth_prevalence_average_value : 34.4 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 9.7 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 18.9 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 15.7 AND has_birth_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 25.1 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 22.3 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 22.4 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 21.0 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1199 Esophageal atresia ORPHA:1199 ICD-10:Q39.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q39.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB12.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MeSH:D004933 E (Exact mapping: the two concepts are equivalent) MedDRA:10030146 E (Exact mapping: the two concepts are equivalent) OMIM:189960 E (Exact mapping: the two concepts are equivalent) UMLS:C0014850 E (Exact mapping: the two concepts are equivalent) 12q13.2 ClinVar:SUOX Ensembl:ENSG00000139531 Genatlas:SUOX HGNC:11460 OMIM:606887 Reactome:P51687 SwissProt:P51687 SUOX sulfite oxidase 9q34.2 SHY1 surfeit locus protein 1 ClinVar:SURF1 Ensembl:ENSG00000148290 Genatlas:SURF1 HGNC:11474 OMIM:185620 Reactome:Q15526 SwissProt:Q15526 SURF1 SURF1 cytochrome c oxidase assembly factor Xp11.3-p11.23 Synapsin-1 ClinVar:SYN1 Ensembl:ENSG00000008056 Genatlas:SYN1 HGNC:11494 OMIM:313440 Reactome:P17600 SwissProt:P17600 SYN1 synapsin I 6q27 ClinVar:T Ensembl:ENSG00000164458 Genatlas:T HGNC:11515 IUPHAR:3304 OMIM:601397 SwissProt:O15178 TBXT T-box transcription factor T 1p32.1 EGP-1 GA733-1 TROP2 epithelial glycoprotein-1 trophoblast cell surface antigen 2 ClinVar:TACSTD2 Ensembl:ENSG00000184292 Genatlas:TACSTD2 HGNC:11530 IUPHAR:2837 OMIM:137290 SwissProt:P09758 TACSTD2 tumor associated calcium signal transducer 2 1p33 SCL bHLHa17 ClinVar:TAL1 Ensembl:ENSG00000162367 Genatlas:TAL1 HGNC:11556 OMIM:187040 Reactome:P17542 SwissProt:P17542 TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor 6p21.32 D6S217E PSF2 RING11 ClinVar:TAP2 Ensembl:ENSG00000204267 Genatlas:TAP2 HGNC:44 IUPHAR:770 OMIM:170261 Reactome:Q03519 SwissProt:Q03519 TAP2 transporter 2, ATP binding cassette subfamily B member 16q22.2 ClinVar:TAT Ensembl:ENSG00000198650 Genatlas:TAT HGNC:11573 IUPHAR:2527 OMIM:613018 Reactome:P17735 SwissProt:P17735 TAT tyrosine aminotransferase Xq28 BTHS Barth syndrome G4.5 TAZ1 XAP-2 transcriptional coactivator with PDZ-binding motif ClinVar:TAZ Ensembl:ENSG00000102125 Genatlas:TAZ HGNC:11577 OMIM:300394 Reactome:Q16635 SwissProt:Q16635 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase 1q42.3 KCS1 pac2 ClinVar:TBCE Ensembl:ENSG00000284770 Genatlas:TBCE HGNC:11582 OMIM:604934 Reactome:Q15813 SwissProt:Q15813 TBCE tubulin folding cofactor E 7q11.23 DKFZP43N024 WBSCR13 WS-betaTRP Williams-Beuren syndrome chromosome region 13 ClinVar:TBL2 Ensembl:ENSG00000106638 Genatlas:TBL2 HGNC:11586 OMIM:605842 SwissProt:Q9Y4P3 TBL2 transducin beta like 2 6q27 Spinocerebellar ataxia 17 TBP1 TFIID ClinVar:TBP Ensembl:ENSG00000112592 Genatlas:TBP HGNC:11588 OMIM:600075 Reactome:P20226 SwissProt:P20226 TBP TATA-box binding protein 22q11.21 CATCH22 ClinVar:TBX1 Ensembl:ENSG00000184058 Genatlas:TBX1 HGNC:11592 OMIM:602054 SwissProt:O43435 TBX1 T-box transcription factor 1 1q24.2 TBS 19 TPIT dj747L4.1 ClinVar:TBX19 Ensembl:ENSG00000143178 Genatlas:TBX19 HGNC:11596 OMIM:604614 Reactome:O60806 SwissProt:O60806 TBX19 T-box transcription factor 19 Xq21.1 ClinVar:TBX22 Ensembl:ENSG00000122145 Genatlas:TBX22 HGNC:11600 OMIM:300307 SwissProt:Q9Y458 TBX22 T-box transcription factor 22 12q24.21 TBX3-ISO XHL ClinVar:TBX3 Ensembl:ENSG00000135111 Genatlas:TBX3 HGNC:11602 OMIM:601621 Reactome:O15119 SwissProt:O15119 TBX3 T-box transcription factor 3 17q23.2 ClinVar:TBX4 Ensembl:ENSG00000121075 Genatlas:TBX4 HGNC:11603 OMIM:601719 SwissProt:P57082 TBX4 T-box transcription factor 4 12q24.21 ClinVar:TBX5 Ensembl:ENSG00000089225 Genatlas:TBX5 HGNC:11604 OMIM:601620 Reactome:Q99593 SwissProt:Q99593 TBX5 T-box transcription factor 5 17q12 19 kDa sarcomeric protein CMD1N T-cap TELE telethonin teneurin C-terminal associated peptide ClinVar:TCAP Ensembl:ENSG00000173991 Genatlas:TCAP HGNC:11610 OMIM:604488 Reactome:O15273 SwissProt:O15273 TCAP titin-cap 11q13.2 ATP6N1C ATP6V0A3 Atp6i OC-116 OC116 T-cell immune response cDNA 7 TIRC7 V-ATPase subunit a3 a3 ClinVar:TCIRG1 Ensembl:ENSG00000110719 Genatlas:TCIRG1 HGNC:11647 IUPHAR:825 OMIM:604592 Reactome:Q13488 SwissProt:Q13488 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 22q12.2 D22S676 D22S750 TC2 macrocytic anemia ClinVar:TCN2 Ensembl:ENSG00000185339 Genatlas:TCN2 HGNC:11653 OMIM:613441 Reactome:P20062 SwissProt:P20062 TCN2 transcobalamin 2 NON RARE IN EUROPE: Acquired pernicious anemia NON RARE IN EUROPE: Addison-Biermer anemia NON RARE IN EUROPE: Addisonian anemia NON RARE IN EUROPE: Biermer anemia NON RARE IN EUROPE: Biermer disease NON RARE IN EUROPE: Juvenile onset pernicious anemia This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:D51.0 NON RARE IN EUROPE: Pernicious anemia ORPHA:120 ICD-10:D51.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphisms (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence. Orphanet ICD-10:Q87.8 MONDO:0012064 MeSH:C537411 OMIM:608572 OMIM:616462 UMLS:C1837822 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 20.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1200 Burn-McKeown syndrome ORPHA:1200 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0012064 E (Exact mapping: the two concepts are equivalent) MeSH:C537411 E (Exact mapping: the two concepts are equivalent) OMIM:608572 E (Exact mapping: the two concepts are equivalent) OMIM:616462 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1837822 E (Exact mapping: the two concepts are equivalent) 5q32-q33.1 TCS treacle ClinVar:TCOF1 Ensembl:ENSG00000070814 Genatlas:TCOF1 HGNC:11654 OMIM:606847 Reactome:Q13428 SwissProt:Q13428 TCOF1 treacle ribosome biogenesis factor 1 14q32.11 FLJ11090 SCAN1 ClinVar:TDP1 Ensembl:ENSG00000042088 Genatlas:TDP1 HGNC:18884 OMIM:607198 Reactome:Q9NUW8 SwissProt:Q9NUW8 TDP1 tyrosyl-DNA phosphodiesterase 1 11p15.3 TEF-1 transcriptional enhancer factor 1 ClinVar:TEAD1 Ensembl:ENSG00000187079 Genatlas:TEAD1 HGNC:11714 IUPHAR:3240 OMIM:189967 Reactome:P28347 SwissProt:P28347 TEAD1 TEA domain transcription factor 1 11q23.3 ClinVar:TECTA Ensembl:ENSG00000109927 Genatlas:TECTA HGNC:11720 OMIM:602574 Reactome:O75443 SwissProt:O75443 TECTA tectorin alpha 9p21.2 CD202b TIE-2 TIE2 VMCM1 angiopoietin-1 receptor ClinVar:TEK Ensembl:ENSG00000120156 Genatlas:TEK HGNC:11724 IUPHAR:1842 OMIM:600221 Reactome:Q02763 SwissProt:Q02763 TEK TEK receptor tyrosine kinase 3q22.1 PRO1557 PRO2086 serotransferrin ClinVar:TF Ensembl:ENSG00000091513 Genatlas:TF HGNC:11740 OMIM:190000 Reactome:P02787 SwissProt:P02787 TF transferrin 6p12.3 AP-2beta AP2-B ClinVar:TFAP2B Ensembl:ENSG00000008196 Genatlas:TFAP2B HGNC:11743 OMIM:601601 Reactome:Q92481 SwissProt:Q92481 TFAP2B transcription factor AP-2 beta 6q25.3 CGI-75 dimethyladenosine transferase 1, mitochondrial mtTFB ClinVar:TFB1M Ensembl:ENSG00000029639 Genatlas:TFB1M HGNC:17037 OMIM:607033 Reactome:Q8WVM0 SwissProt:Q8WVM0 TFB1M transcription factor B1, mitochondrial Xp11.23 TFEA bHLHe33 transcription factor E family, member A ClinVar:TFE3 Ensembl:ENSG00000068323 Genatlas:TFE3 HGNC:11752 OMIM:314310 Reactome:P19532 SwissProt:P19532 TFE3 transcription factor binding to IGHM enhancer 3 3q12.2 FLJ36137 SPG57 TF6 ClinVar:TFG Ensembl:ENSG00000114354 Genatlas:TFG HGNC:11758 OMIM:602498 Reactome:Q92734 SwissProt:Q92734 TFG trafficking from ER to golgi regulator 7q22.1 HFE3 TFRC2 ClinVar:TFR2 Ensembl:ENSG00000106327 Genatlas:TFR2 HGNC:11762 OMIM:604720 Reactome:Q9UP52 SwissProt:Q9UP52 TFR2 transferrin receptor 2 19q13.2 CED Camurati-Engelmann disease Diaphyseal dysplasia 1, progressive TGFbeta prepro-transforming growth factor beta-1 ClinVar:TGFB1 Ensembl:ENSG00000105329 Genatlas:TGFB1 HGNC:11766 OMIM:190180 Reactome:P01137 SwissProt:P01137 TGFB1 transforming growth factor beta 1 1q41 prepro-transforming growth factor beta-2 ClinVar:TGFB2 Ensembl:ENSG00000092969 Genatlas:TGFB2 HGNC:11768 OMIM:190220 Reactome:P61812 SwissProt:P61812 TGFB2 transforming growth factor beta 2 14q24.3 prepro-transforming growth factor beta-3 ClinVar:TGFB3 Ensembl:ENSG00000119699 Genatlas:TGFB3 HGNC:11769 OMIM:190230 Reactome:P10600 SwissProt:P10600 TGFB3 transforming growth factor beta 3 5q31.1 BIGH3 CDB1 CDGG1 ClinVar:TGFBI Ensembl:ENSG00000120708 Genatlas:TGFBI HGNC:11771 OMIM:601692 Reactome:Q15582 SwissProt:Q15582 TGFBI transforming growth factor beta induced 9q22.33 ACVRLK4 ALK-5 ALK5 TBR-i TBRI activin A receptor type II-like kinase, 53kDa ClinVar:TGFBR1 Ensembl:ENSG00000106799 Genatlas:TGFBR1 HGNC:11772 IUPHAR:1788 OMIM:190181 Reactome:P36897 SwissProt:P36897 TGFBR1 transforming growth factor beta receptor 1 3p24.1 TBR-ii TBRII ClinVar:TGFBR2 Ensembl:ENSG00000163513 Genatlas:TGFBR2 HGNC:11773 IUPHAR:1795 OMIM:190182 Reactome:P37173 SwissProt:P37173 TGFBR2 transforming growth factor beta receptor 2 18p11.31 ClinVar:TGIF1 Ensembl:ENSG00000177426 Genatlas:TGIF1 HGNC:11776 OMIM:602630 Reactome:Q15583 SwissProt:Q15583 TGIF1 TGFB induced factor homeobox 1 14q12 K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase LI LI1 TGASE TGK ClinVar:TGM1 Ensembl:ENSG00000092295 Genatlas:TGM1 HGNC:11777 OMIM:190195 Reactome:P22735 SwissProt:P22735 TGM1 transglutaminase 1 15q15.2 TGMX TGX protein-glutamine gamma-glutamyltransferase 5 ClinVar:TGM5 Ensembl:ENSG00000104055 Genatlas:TGM5 HGNC:11781 OMIM:603805 Reactome:O43548 SwissProt:O43548 TGM5 transglutaminase 5 11p15.5 DYT5b tyrosine 3-monooxygenase ClinVar:TH Ensembl:ENSG00000180176 Genatlas:TH HGNC:11782 IUPHAR:1243 OMIM:191290 Reactome:P07101 SwissProt:P07101 TH tyrosine hydroxylase 20p11.21 BDCA-3 CD141 THRM fetomodulin ClinVar:THBD Ensembl:ENSG00000178726 Genatlas:THBD HGNC:11784 OMIM:188040 Reactome:P07204 SwissProt:P07204 THBD thrombomodulin 3q27.1 MPL ligand MPLLG TPO c-mpl ligand megakaryocyte colony-stimulating factor megakaryocyte growth and development factor megakaryocyte stimulating factor myeloproliferative leukemia virus oncogene ligand prepro-thrombopoietin thrombopoietin nirs ClinVar:THPO Ensembl:ENSG00000090534 Genatlas:THPO HGNC:11795 OMIM:600044 Reactome:P40225 SwissProt:P40225 THPO thrombopoietin Atresia of small bowel Atresia of small intestine Jejunal atresia Jejunoileal atresia SBA Small intestinal atresia A rare, congenital defect of the small intestine characterized by disruption in the normal small intestine continuity, resulting in intestinal obstruction. The malformation may be classified in four different types of small bowel atresia (SBA) based on the anatomical obstruction. Orphanet ICD-10:Q41.0 ICD-10:Q41.1 ICD-10:Q41.2 ICD-10:Q41.8 ICD-10:Q41.9 ICD-11:LB15.1 MONDO:0009476 MeSH:C538260 MedDRA:10010626 OMIM:243600 UMLS:C0266172 Autosomal recessive Not applicable Unknown Antenatal Austria AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Belgium AND has_birth_prevalence_average_value : 15.0 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 19.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown France AND has_birth_prevalence_average_value : 18.0 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 14.0 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 14.5 AND has_birth_prevalence_range : 1-5 / 10 000 Malta AND has_birth_prevalence_average_value : 12.0 AND has_birth_prevalence_range : 1-5 / 10 000 Portugal AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Reunion AND has_birth_prevalence_average_value : 22.0 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 18.0 AND has_birth_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1201 Small bowel atresia ORPHA:1201 ICD-10:Q41.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q41.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q41.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q41.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:Q41.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LB15.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0009476 E (Exact mapping: the two concepts are equivalent) MeSH:C538260 E (Exact mapping: the two concepts are equivalent) MedDRA:10010626 E (Exact mapping: the two concepts are equivalent) OMIM:243600 E (Exact mapping: the two concepts are equivalent) UMLS:C0266172 E (Exact mapping: the two concepts are equivalent) 3p24.2 ERBA-BETA GRTH NR1A2 THR1 THRB1 THRB2 THRbeta THRbeta1 TRb TRbeta TRbeta1 Thrbeta2 avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2 c-erbA-2 c-erbA-beta generalized resistance to thyroid hormone nuclear receptor subfamily 1 group A member 2 oncogene ERBA2 thyroid hormone receptor beta 1 ClinVar:THRB Ensembl:ENSG00000151090 Genatlas:THRB HGNC:11799 IUPHAR:589 OMIM:190160 Reactome:P10828 SwissProt:P10828 THRB thyroid hormone receptor beta Xq22.1 DDP MTS ClinVar:TIMM8A Ensembl:ENSG00000126953 Genatlas:TIMM8A HGNC:11817 OMIM:300356 Reactome:O60220 SwissProt:O60220 TIMM8A translocase of inner mitochondrial membrane 8A 22q12.3 ClinVar:TIMP3 Ensembl:ENSG00000100234 Genatlas:TIMP3 HGNC:11822 OMIM:188826 Reactome:P35625 SwissProt:P35625 TIMP3 TIMP metallopeptidase inhibitor 3 16q21 SCA31 mitochondrial thymidine kinase ClinVar:TK2 Ensembl:ENSG00000166548 Genatlas:TK2 HGNC:11831 OMIM:188250 Reactome:O00142 SwissProt:O00142 TK2 thymidine kinase 2 9q21.13 ClinVar:TMC1 Ensembl:ENSG00000165091 Genatlas:TMC1 HGNC:16513 OMIM:606706 SwissProt:Q8TDI8 TMC1 transmembrane channel like 1 11p14.3 GDD1 ClinVar:ANO5 Ensembl:ENSG00000171714 Genatlas:ANO5 HGNC:27337 OMIM:608662 Reactome:Q75V66 SwissProt:Q75V66 ANO5 anoctamin 5 8q22.1 JBTS6 MGC26979 Meckelin NPHP11 ClinVar:TMEM67 Ensembl:ENSG00000164953 Genatlas:TMEM67 HGNC:28396 OMIM:609884 Reactome:Q5HYA8 SwissProt:Q5HYA8 TMEM67 transmembrane protein 67 3p21.31 ClinVar:TMIE Ensembl:ENSG00000181585 Genatlas:TMIE HGNC:30800 OMIM:607237 SwissProt:Q8NEW7 TMIE transmembrane inner ear 21q22.3 ClinVar:TMPRSS3 Ensembl:ENSG00000160183 Genatlas:TMPRSS3 HGNC:11877 OMIM:605511 SwissProt:P57727 TMPRSS3 transmembrane serine protease 3 18q21.33 CD265 FEO ODFR RANK TRANCE receptor TRANCE-R familial expansile osteolysis osteoclast differentiation factor receptor receptor activator of nuclear factor kappa B ClinVar:TNFRSF11A Ensembl:ENSG00000141655 Genatlas:TNFRSF11A HGNC:11908 IUPHAR:1881 OMIM:603499 Reactome:Q9Y6Q6 SwissProt:Q9Y6Q6 TNFRSF11A TNF receptor superfamily member 11a 8q24.12 OCIF TR1 osteoclastogenesis inhibitory factor ClinVar:TNFRSF11B Ensembl:ENSG00000164761 Genatlas:TNFRSF11B HGNC:11909 IUPHAR:1882 OMIM:602643 Reactome:O00300 SwissProt:O00300 TNFRSF11B TNF receptor superfamily member 11b 17p11.2 CD267 IGAD2 TACI ClinVar:TNFRSF13B Ensembl:ENSG00000240505 Genatlas:TNFRSF13B HGNC:18153 IUPHAR:1885 OMIM:604907 Reactome:O14836 SwissProt:O14836 TNFRSF13B TNF receptor superfamily member 13B 12p13.31 CD120a TNF-R TNF-R-I TNF-R55 TNFAR TNFR60 ClinVar:TNFRSF1A Ensembl:ENSG00000067182 Genatlas:TNFRSF1A HGNC:11916 IUPHAR:1870 OMIM:191190 Reactome:P19438 SwissProt:P19438 TNFRSF1A TNF receptor superfamily member 1A 11p15.5 DA2B FSSV fsTnI troponin I fast twitch 2 troponin I, fast-twitch skeletal muscle isoform ClinVar:TNNI2 Ensembl:ENSG00000130598 Genatlas:TNNI2 HGNC:11946 OMIM:191043 Reactome:P48788 SwissProt:P48788 TNNI2 troponin I2, fast skeletal type 19q13.42 CMH7 TNNC1 cTNI ClinVar:TNNI3 Ensembl:ENSG00000129991 Genatlas:TNNI3 HGNC:11947 OMIM:191044 Reactome:P19429 SwissProt:P19429 TNNI3 troponin I3, cardiac type 19q13.42 ANM FLJ98147 MGC104241 NEM5 STNT TNT TNTS nemaline myopathy type 5 slow skeletal muscle troponin T troponin T1, skeletal, slow ClinVar:TNNT1 Ensembl:ENSG00000105048 Genatlas:TNNT1 HGNC:11948 OMIM:191041 Reactome:P13805 SwissProt:P13805 TNNT1 troponin T1, slow skeletal type 1q32.1 CMPD2 ClinVar:TNNT2 Ensembl:ENSG00000118194 Genatlas:TNNT2 HGNC:11949 OMIM:191045 Reactome:P45379 SwissProt:P45379 TNNT2 troponin T2, cardiac type 11p15.5 AMCD2B DA2B DKFZp779M2348 FSSV troponin-T3, skeletal, fast ClinVar:TNNT3 Ensembl:ENSG00000130595 Genatlas:TNNT3 HGNC:11950 OMIM:600692 Reactome:P45378 SwissProt:P45378 TNNT3 troponin T3, fast skeletal type 6p21.33-p21.32 HXBL Hexabrachion-like protein TN-X TNX TNXBS XB XBS tenascin-X ClinVar:TNXB Ensembl:ENSG00000168477 Genatlas:TNXB HGNC:11976 OMIM:600985 Reactome:P22105 SwissProt:P22105 TNXB tenascin XB A rare larynx anomaly characterized by complete absence of the laryngeal lumen resulting in congenital upper airway obstruction syndrome which, without fetal or neonatal intervention, is incompatible with life. Fetal sonography shows a dilated trachea, hyperechoic lungs, pleural effusion, minimal fetal abdominal ascites or hydrops, and amniotic fluid abnormalities. Orphanet ICD-10:Q31.8 ICD-11:LA71.Y MONDO:0007879 OMIM:150300 UMLS:C0265756 Autosomal dominant All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1202 Larynx atresia ORPHA:1202 ICD-10:Q31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA71.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007879 E (Exact mapping: the two concepts are equivalent) OMIM:150300 E (Exact mapping: the two concepts are equivalent) UMLS:C0265756 E (Exact mapping: the two concepts are equivalent) 9q34.11 DQ2 torsin A torsin-1A torsinA ClinVar:TOR1A Ensembl:ENSG00000136827 Genatlas:TOR1A HGNC:3098 OMIM:605204 Reactome:O14656 SwissProt:O14656 TOR1A torsin family 1 member A 17p13.1 LFS1 Li-Fraumeni syndrome P53 p53 ClinVar:TP53 Ensembl:ENSG00000141510 Genatlas:TP53 HGNC:11998 OMIM:191170 Reactome:P04637 SwissProt:P04637 TP53 tumor protein p53 3q28 EEC3 KET NBP OFC8 SHFM4 p40 p51 p53CP p63 p73H p73L ClinVar:TP63 Ensembl:ENSG00000073282 Genatlas:TP63 HGNC:15979 OMIM:603273 Reactome:Q9H3D4 SwissProt:Q9H3D4 TP63 tumor protein p63 12p13.31 ClinVar:TPI1 Ensembl:ENSG00000111669 Genatlas:TPI1 HGNC:12009 OMIM:190450 Reactome:P60174 SwissProt:P60174 TPI1 triosephosphate isomerase 1 15q22.2 ClinVar:TPM1 Ensembl:ENSG00000140416 Genatlas:TPM1 HGNC:12010 OMIM:191010 Reactome:P09493 SwissProt:P09493 TPM1 tropomyosin 1 9p13.3 DA1 NEM4 nemaline myopathy type 4 ClinVar:TPM2 Ensembl:ENSG00000198467 Genatlas:TPM2 HGNC:12011 OMIM:190990 Reactome:P07951 SwissProt:P07951 TPM2 tropomyosin 2 1q21.3 TRK ClinVar:TPM3 Ensembl:ENSG00000143549 Genatlas:TPM3 HGNC:12012 OMIM:191030 Reactome:P06753 SwissProt:P06753 TPM3 tropomyosin 3 2p25.3 TPX ClinVar:TPO Ensembl:ENSG00000115705 Genatlas:TPO HGNC:12015 IUPHAR:2526 OMIM:606765 Reactome:P07202 SwissProt:P07202 TPO thyroid peroxidase 11p15.4 LPIC TPP I TPP-1 lysosomal pepstatin-insensitive carboxypeptidase ClinVar:TPP1 Ensembl:ENSG00000166340 Genatlas:TPP1 HGNC:2073 OMIM:607998 Reactome:O14773 SwissProt:O14773 TPP1 tripeptidyl peptidase 1 1q31.1 ClinVar:TPR Ensembl:ENSG00000047410 Genatlas:TPR HGNC:12017 OMIM:189940 Reactome:P12270 SwissProt:P12270 TPR translocated promoter region, nuclear basket protein Xp22.2 MIP-2A SEDT TRS20 ZNF547L hYP38334 ClinVar:TRAPPC2 Ensembl:ENSG00000196459 Genatlas:TRAPPC2 HGNC:23068 OMIM:300202 Reactome:P0DI81 SwissProt:P0DI81 TRAPPC2 trafficking protein particle complex subunit 2 6p21.1 TREM-2 Trem2a Trem2b Trem2c ClinVar:TREM2 Ensembl:ENSG00000095970 Genatlas:TREM2 HGNC:17761 OMIM:605086 Reactome:Q9NZC2 SwissProt:Q9NZC2 TREM2 triggering receptor expressed on myeloid cells 2 3p21.31 DRN3 ClinVar:TREX1 Ensembl:ENSG00000213689 Genatlas:TREX1 HGNC:12269 OMIM:606609 Reactome:Q9NSU2 SwissProt:Q9NSU2 TREX1 three prime repair exonuclease 1 3q22.1 prothyroliberin ClinVar:TRH Ensembl:ENSG00000170893 Genatlas:TRH HGNC:12298 OMIM:613879 Reactome:P20396 SwissProt:P20396 TRH thyrotropin releasing hormone 8q23.1 ClinVar:TRHR Ensembl:ENSG00000174417 Genatlas:TRHR HGNC:12299 IUPHAR:363 OMIM:188545 Reactome:P34981 SwissProt:P34981 TRHR thyrotropin releasing hormone receptor 7q33-q34 RNF82 TIF1A Tif1a hTIF1 ClinVar:TRIM24 Ensembl:ENSG00000122779 Genatlas:TRIM24 HGNC:11812 IUPHAR:2252 OMIM:603406 Reactome:O15164 SwissProt:O15164 TRIM24 tripartite motif containing 24 6p22.1 RNF76 ClinVar:TRIM27 Ensembl:ENSG00000204713 Genatlas:TRIM27 HGNC:9975 OMIM:602165 Reactome:P14373 SwissProt:P14373 TRIM27 tripartite motif containing 27 9q33.1 BBS11 HT2A TATIP ClinVar:TRIM32 Ensembl:ENSG00000119401 Genatlas:TRIM32 HGNC:16380 OMIM:602290 Reactome:Q13049 SwissProt:Q13049 TRIM32 tripartite motif containing 32 1p13.2 FLJ11429 KIAA1113 PTC7 RFG7 TF1G TIF1G TIF1GAMMA TIFGAMMA ret-fused gene 7 transcriptional intermediary factor 1 gamma ClinVar:TRIM33 Ensembl:ENSG00000197323 Genatlas:TRIM33 HGNC:16290 IUPHAR:2254 OMIM:605769 Reactome:Q9UPN9 SwissProt:Q9UPN9 TRIM33 tripartite motif containing 33 17q22 E3 ubiquitin-protein ligase TRIM37 KIAA0898 POB1 RING-B-box-coiled-coil protein TEF3 ClinVar:TRIM37 Ensembl:ENSG00000108395 Genatlas:TRIM37 HGNC:7523 OMIM:605073 Reactome:O94972 SwissProt:O94972 TRIM37 tripartite motif containing 37 22q13.31 FLJ10140 MTO2 MTU1 mitochondrial tRNA-specific 2-thiouridylase 1 ClinVar:TRMU Ensembl:ENSG00000100416 Genatlas:TRMU HGNC:25481 OMIM:610230 Reactome:O75648 SwissProt:O75648 TRMU tRNA mitochondrial 2-thiouridylase 11q22.1 TRP6 ClinVar:TRPC6 Ensembl:ENSG00000137672 Genatlas:TRPC6 HGNC:12338 IUPHAR:491 OMIM:603652 Reactome:Q9Y210 SwissProt:Q9Y210 TRPC6 transient receptor potential cation channel subfamily C member 6 A rare, non-syndromic intestinal malformation characterized by a complete but short segment obliteration of the duodenal lumen. Orphanet ICD-10:Q41.0 ICD-11:LB14 MONDO:0009126 MeSH:C535720 MedDRA:10013812 OMIM:223400 UMLS:C0266174 Unknown Antenatal Childhood Infancy Neonatal Austria AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Austria AND has_point_prevalence_range : 1-9 / 100 000 Belgium AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 Belgium AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 9.0 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_point_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_point_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_range : 1-9 / 100 000 Malta AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Malta AND has_point_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_range : 1-9 / 100 000 Reunion AND has_birth_prevalence_average_value : 7.0 AND has_birth_prevalence_range : 1-9 / 100 000 Reunion AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1203 Duodenal atresia ORPHA:1203 ICD-10:Q41.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB14 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0009126 E (Exact mapping: the two concepts are equivalent) MeSH:C535720 E (Exact mapping: the two concepts are equivalent) MedDRA:10013812 E (Exact mapping: the two concepts are equivalent) OMIM:223400 E (Exact mapping: the two concepts are equivalent) UMLS:C0266174 E (Exact mapping: the two concepts are equivalent) 9q21.13 CHAK2 FLJ22628 ClinVar:TRPM6 Ensembl:ENSG00000119121 Genatlas:TRPM6 HGNC:17995 IUPHAR:498 OMIM:607009 Reactome:Q9BX84 SwissProt:Q9BX84 TRPM6 transient receptor potential cation channel subfamily M member 6 8q23.3 GC79 LGCR ClinVar:TRPS1 Ensembl:ENSG00000104447 Genatlas:TRPS1 HGNC:12340 OMIM:604386 SwissProt:Q9UHF7 TRPS1 transcriptional repressor GATA binding 1 9q34.13 KIAA0243 LAM hamartin ClinVar:TSC1 Ensembl:ENSG00000165699 Genatlas:TSC1 HGNC:12362 OMIM:605284 Reactome:Q92574 SwissProt:Q92574 TSC1 TSC complex subunit 1 16p13.3 LAM PPP1R160 protein phosphatase 1, regulatory subunit 160 tuberin ClinVar:TSC2 Ensembl:ENSG00000103197 Genatlas:TSC2 HGNC:12363 OMIM:191092 Reactome:P49815 SwissProt:P49815 TSC2 TSC complex subunit 2 14q24-q31 LGR3 ClinVar:TSHR Ensembl:ENSG00000165409 Genatlas:TSHR HGNC:12373 IUPHAR:255 OMIM:603372 Reactome:P16473 SwissProt:P16473 TSHR thyroid stimulating hormone receptor 14q31.3 BBS8 RP51 ClinVar:TTC8 Ensembl:ENSG00000165533 Genatlas:TTC8 HGNC:20087 OMIM:608132 Reactome:Q8TAM2 SwissProt:Q8TAM2 TTC8 tetratricopeptide repeat domain 8 2q31.2 CMH9 CMPD4 FLJ32040 LGMD2J MYLK5 TMD ClinVar:TTN Ensembl:ENSG00000155657 Genatlas:TTN HGNC:12403 IUPHAR:2265 OMIM:188840 Reactome:Q8WZ42 SwissProt:Q8WZ42 TTN titin 8q12.3 ClinVar:TTPA Ensembl:ENSG00000137561 Genatlas:TTPA HGNC:12404 OMIM:600415 Reactome:P49638 SwissProt:P49638 TTPA alpha tocopherol transfer protein 18q12.1 CTS HsT2651 ClinVar:TTR Ensembl:ENSG00000118271 Genatlas:TTR HGNC:12405 IUPHAR:2851 OMIM:176300 Reactome:P02766 SwissProt:P02766 TTR transthyretin 6p21.31 LCA15 TUBL1 ClinVar:TULP1 Ensembl:ENSG00000112041 Genatlas:TULP1 HGNC:12423 OMIM:602280 Reactome:O00294 SwissProt:O00294 TULP1 TUB like protein 1 7p21.1 BPES2 CRS1 H-twist SCS Saethre-Chotzen syndrome bHLHa38 ClinVar:TWIST1 Ensembl:ENSG00000122691 Genatlas:TWIST1 HGNC:12428 OMIM:601622 Reactome:Q15672 SwissProt:Q15672 TWIST1 twist family bHLH transcription factor 1 11q14.3 OCA1 OCA1A OCAIA oculocutaneous albinism IA ClinVar:TYR Ensembl:ENSG00000077498 Genatlas:TYR HGNC:12442 IUPHAR:2643 OMIM:606933 Reactome:P14679 SwissProt:P14679 TYR tyrosinase 19q13.12 DAP12 DNAX adaptor protein 12 DNAX-activation protein 12 KARAP PLO-SL killer activating receptor associated protein ClinVar:TYROBP Ensembl:ENSG00000011600 Genatlas:TYROBP HGNC:12449 OMIM:604142 Reactome:O43914 SwissProt:O43914 TYROBP transmembrane immune signaling adaptor TYROBP 9p23 CATB GP75 OCA3 TRP b-PROTEIN ClinVar:TYRP1 Ensembl:ENSG00000107165 Genatlas:TYRP1 HGNC:12450 OMIM:115501 Reactome:P17643 SwissProt:P17643 TYRP1 tyrosinase related protein 1 15q11.2 ANCR AS Angelman syndrome E6-AP FLJ26981 ClinVar:UBE3A Ensembl:ENSG00000114062 Genatlas:UBE3A HGNC:12496 OMIM:601623 Reactome:Q05086 SwissProt:Q05086 UBE3A ubiquitin protein ligase E3A 15q15.2 ClinVar:UBR1 Ensembl:ENSG00000159459 Genatlas:UBR1 HGNC:16808 OMIM:605981 Reactome:Q8IWV7 SwissProt:Q8IWV7 UBR1 ubiquitin protein ligase E3 component n-recognin 1 4p13 PGP9.5 UCHL-1 Uch-L1 ubiquitin thiolesterase ClinVar:UCHL1 Ensembl:ENSG00000154277 Genatlas:UCHL1 HGNC:12513 IUPHAR:2426 OMIM:191342 Reactome:P09936 SwissProt:P09936 UCHL1 ubiquitin C-terminal hydrolase L1 2q37.1 UGT1A ClinVar:UGT1A1 Ensembl:ENSG00000241635 Genatlas:UGT1A1 HGNC:12530 IUPHAR:2990 OMIM:191740 Reactome:P22309 SwissProt:P22309 UGT1A1 UDP glucuronosyltransferase family 1 member A1 16p12.3 Tamm-Horsfall glycoprotein uromucoid ClinVar:UMOD Ensembl:ENSG00000169344 Genatlas:UMOD HGNC:12559 OMIM:191845 Reactome:P07911 SwissProt:P07911 UMOD uromodulin 3q21.2 orotate phosphoribosyl transferase and orotidine-5'-decarboxylase ClinVar:UMPS Ensembl:ENSG00000114491 Genatlas:UMPS HGNC:12563 OMIM:613891 Reactome:P11172 SwissProt:P11172 UMPS uridine monophosphate synthetase 17q25.3 Munc13-4 ClinVar:UNC13D Ensembl:ENSG00000092929 Genatlas:UNC13D HGNC:23147 OMIM:608897 Reactome:Q70J99 SwissProt:Q70J99 UNC13D unc-13 homolog D 11q13.2 UNC93 ClinVar:UNC93B1 Ensembl:ENSG00000110057 Genatlas:UNC93B1 HGNC:13481 OMIM:608204 Reactome:Q9H1C4 SwissProt:Q9H1C4 UNC93B1 unc-93 homolog B1, TLR signaling regulator 12q24.11 HIGM4 UDG UNG1 UNG2 uracil-DNA glycosylase 1, uracil-DNA glycosylase 2 ClinVar:UNG Ensembl:ENSG00000076248 Genatlas:UNG HGNC:12572 OMIM:191525 Reactome:P13051 SwissProt:P13051 UNG uracil DNA glycosylase 22q11.23 BUP1 ClinVar:UPB1 Ensembl:ENSG00000100024 Genatlas:UPB1 HGNC:16297 OMIM:606673 Reactome:Q9UBR1 SwissProt:Q9UBR1 UPB1 beta-ureidopropionase 1 1p34.1 ClinVar:UROD Ensembl:ENSG00000126088 Genatlas:UROD HGNC:12591 OMIM:613521 Reactome:P06132 SwissProt:P06132 UROD uroporphyrinogen decarboxylase 10q26.2 congenital erythropoietic porphyria ClinVar:UROS Ensembl:ENSG00000188690 Genatlas:UROS HGNC:12592 OMIM:606938 Reactome:P10746 SwissProt:P10746 UROS uroporphyrinogen III synthase 11p15.1 AIE-75 NY-CO-37 NY-CO-38 PDZ-73 PDZ73 PDZD7C harmonin ClinVar:USH1C Ensembl:ENSG00000006611 Genatlas:USH1C HGNC:12597 OMIM:605242 Reactome:Q9Y6N9 SwissProt:Q9Y6N9 USH1C USH1 protein network component harmonin 17q25.1 ANKS4A FLJ33924 Sans ClinVar:USH1G Ensembl:ENSG00000182040 Genatlas:USH1G HGNC:16356 OMIM:607696 Reactome:Q495M9 SwissProt:Q495M9 USH1G USH1 protein network component sans 1q41 RP39 ClinVar:USH2A Ensembl:ENSG00000042781 Genatlas:USH2A HGNC:12601 OMIM:608400 SwissProt:O75445 USH2A usherin Yq11.221 AZFA DFFRY FAF-Y azoospermia factor A fat facets-like homolog (Drosophila) ClinVar:USP9Y Ensembl:ENSG00000114374 Genatlas:USP9Y HGNC:12633 OMIM:400005 SwissProt:O00507 USP9Y ubiquitin specific peptidase 9 Y-linked 20q13.32 ALS8 VAP-B VAP-C ClinVar:VAPB Ensembl:ENSG00000124164 Genatlas:VAPB HGNC:12649 OMIM:605704 Reactome:O95292 SwissProt:O95292 VAPB VAMP associated protein B and C 5q14.2-q14.3 PG-M versican proteoglycan ClinVar:VCAN Ensembl:ENSG00000038427 Genatlas:VCAN HGNC:2464 OMIM:118661 Reactome:P13611 SwissProt:P13611 VCAN versican 9p13.3 CDC48 IBMPFD TERA p97 transitional endoplasmic reticulum ATPase ClinVar:VCP Ensembl:ENSG00000165280 Genatlas:VCP HGNC:12666 OMIM:601023 Reactome:P55072 SwissProt:P55072 VCP valosin containing protein 12q13.11 1,25- dihydroxyvitamin D3 receptor NR1I1 PPP1R163 protein phosphatase 1, regulatory subunit 163 ClinVar:VDR Ensembl:ENSG00000111424 Genatlas:VDR HGNC:12679 IUPHAR:605 OMIM:601769 Reactome:P11473 SwissProt:P11473 VDR vitamin D receptor 3p25.3 VHL1 ClinVar:VHL Ensembl:ENSG00000134086 Genatlas:VHL HGNC:12687 IUPHAR:3204 OMIM:608537 Reactome:P40337 SwissProt:P40337 VHL von Hippel-Lindau tumor suppressor 9p24.2 CARMQ1 CHRMQ1 VLDLRCH ClinVar:VLDLR Ensembl:ENSG00000147852 Genatlas:VLDLR HGNC:12698 OMIM:192977 Reactome:P98155 SwissProt:P98155 VLDLR very low density lipoprotein receptor 9q21.2 BLTP5A KIAA0986 bridge-like lipid transfer protein family member 5A chorein ClinVar:VPS13A Ensembl:ENSG00000197969 Genatlas:VPS13A HGNC:1908 OMIM:605978 SwissProt:Q96RL7 VPS13A vacuolar protein sorting 13 homolog A 8q22.2 BLTP5B bridge-like lipid transfer protein family member 5B ClinVar:VPS13B Ensembl:ENSG00000132549 Genatlas:VPS13B HGNC:2183 OMIM:607817 SwissProt:Q7Z7G8 VPS13B vacuolar protein sorting 13 homolog B 15q26.1 FLJ14848 ClinVar:VPS33B Ensembl:ENSG00000184056 Genatlas:VPS33B HGNC:12712 OMIM:608552 SwissProt:Q9H267 VPS33B VPS33B late endosome and lysosome associated 20p11.21 PPCD1 PPD ClinVar:VSX1 Ensembl:ENSG00000100987 Genatlas:VSX1 HGNC:12723 OMIM:605020 SwissProt:Q9NZR4 VSX1 visual system homeobox 1 12p13.31 Factor VIII related antigen ClinVar:VWF Ensembl:ENSG00000110799 Genatlas:VWF HGNC:12726 OMIM:613160 Reactome:P04275 SwissProt:P04275 VWF von Willebrand factor Xp11.23 WASP WASPA eczema-thrombocytopenia ClinVar:WAS Ensembl:ENSG00000015285 Genatlas:WAS HGNC:12731 OMIM:300392 Reactome:P42768 SwissProt:P42768 WAS WASP actin nucleation promoting factor A rare congenital non-syndromic heart malformation characterized by an imperforate or absent mitral valve. In most cases, there is a univentricular atrioventricular connection to a dominant right ventricle via a tricuspid valve, and a hypoplastic left ventricle. Morphologic heterogeneity is considerable, and hemodynamic picture and clinical manifestation depend on the type and severity of associated cardiovascular anomalies (such as ventricular septal defect or aortic atresia). Orphanet ICD-10:Q23.2 ICD-11:LA89.2 MONDO:0015249 MedDRA:10066800 UMLS:C0344760 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1205 Mitral atresia ORPHA:1205 ICD-10:Q23.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA89.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015249 E (Exact mapping: the two concepts are equivalent) MedDRA:10066800 E (Exact mapping: the two concepts are equivalent) UMLS:C0344760 E (Exact mapping: the two concepts are equivalent) 4p16.1 DIDMOAD WFS ClinVar:WFS1 Ensembl:ENSG00000109501 Genatlas:WFS1 HGNC:12762 OMIM:606201 Reactome:O76024 SwissProt:O76024 WFS1 wolframin ER transmembrane glycoprotein 4p16.3 KMT3G MMSET multiple myeloma SET domain containing protein ClinVar:WHSC1 Ensembl:ENSG00000109685 Genatlas:WHSC1 HGNC:12766 IUPHAR:3220 OMIM:602952 Reactome:O96028 SwissProt:O96028 NSD2 nuclear receptor binding SET domain protein 2 4p16.3 NELF-A ClinVar:NELFA Ensembl:ENSG00000185049 Genatlas:NELFA HGNC:12768 OMIM:606026 Reactome:Q9H3P2 SwissProt:Q9H3P2 NELFA negative elongation factor complex member A 6q21 CCN6 WISP-3 ClinVar:WISP3 Ensembl:ENSG00000112761 Genatlas:WISP3 HGNC:12771 OMIM:603400 SwissProt:O95389 CCN6 cellular communication network factor 6 12p13.33 HSAN2 PPP1R167 protein phosphatase 1, regulatory subunit 167 ClinVar:WNK1 Ensembl:ENSG00000060237 Genatlas:WNK1 HGNC:14540 IUPHAR:2280 OMIM:605232 Reactome:Q9H4A3 SwissProt:Q9H4A3 WNK1 WNK lysine deficient protein kinase 1 17q21.2 ClinVar:WNK4 Ensembl:ENSG00000126562 Genatlas:WNK4 HGNC:14544 IUPHAR:2283 OMIM:601844 Reactome:Q96J92 SwissProt:Q96J92 WNK4 WNK lysine deficient protein kinase 4 17q21.31-q21.32 MGC131950 MGC138321 MGC138323 WNT-3 proto-oncogene protein ClinVar:WNT3 Ensembl:ENSG00000108379 Genatlas:WNT3 HGNC:12782 OMIM:165330 Reactome:P56703 SwissProt:P56703 WNT3 Wnt family member 3 1p36.12 WNT-4 ClinVar:WNT4 Ensembl:ENSG00000162552 Genatlas:WNT4 HGNC:12783 OMIM:603490 Reactome:P56705 SwissProt:P56705 WNT4 Wnt family member 4 3p25.1 Wnt-7a proto-oncogene Wnt7a protein ClinVar:WNT7A Ensembl:ENSG00000154764 Genatlas:WNT7A HGNC:12786 OMIM:601570 Reactome:O00755 SwissProt:O00755 WNT7A Wnt family member 7A 8p12 RECQ3 RECQL2 ClinVar:WRN Ensembl:ENSG00000165392 Genatlas:WRN HGNC:12791 IUPHAR:3259 OMIM:604611 Reactome:Q14191 SwissProt:Q14191 WRN WRN RecQ like helicase 11p13 AWT1 NPHS4 WAGR WIT-2 WT-1 ClinVar:WT1 Ensembl:ENSG00000184937 Genatlas:WT1 HGNC:12796 OMIM:607102 Reactome:P19544 SwissProt:P19544 WT1 WT1 transcription factor 16q23.1-q23.2 FOR SDR41C1 WOX1 short chain dehydrogenase/reductase family 41C, member 1 ClinVar:WWOX Ensembl:ENSG00000186153 Genatlas:WWOX HGNC:12799 OMIM:605131 Reactome:Q9NZC7 SwissProt:Q9NZC7 WWOX WW domain containing oxidoreductase 2p23.1 XO XOR ClinVar:XDH Ensembl:ENSG00000158125 Genatlas:XDH HGNC:12805 IUPHAR:2646 OMIM:607633 Reactome:P47989 SwissProt:P47989 XDH xanthine dehydrogenase Xp21.1 Kx Kx antigen McLeod syndrome X1k XKR1 ClinVar:XK Ensembl:ENSG00000047597 Genatlas:XK HGNC:12811 OMIM:314850 Reactome:P51811 SwissProt:P51811 XK X-linked Kx blood group antigen, Kell and VPS13A binding protein 9q22.33 XP1 XPAC ClinVar:XPA Ensembl:ENSG00000136936 Genatlas:XPA HGNC:12814 OMIM:611153 Reactome:P23025 SwissProt:P23025 XPA XPA, DNA damage recognition and repair factor 3p25.1 RAD4 XPCC xeroderma pigmentosum group C protein ClinVar:XPC Ensembl:ENSG00000154767 Genatlas:XPC HGNC:12816 OMIM:613208 Reactome:Q01831 SwissProt:Q01831 XPC XPC complex subunit, DNA damage recognition and repair factor 2q11.2 STD ZAP-70 tyrosine-protein kinase ZAP-70 ClinVar:ZAP70 Ensembl:ENSG00000115085 Genatlas:ZAP70 HGNC:12858 IUPHAR:2285 OMIM:176947 Reactome:P43403 SwissProt:P43403 ZAP70 zeta chain of T-cell receptor associated protein kinase 70 10p11.22 AREB6 BZP FECD6 NIL-2-A ZEB Zfhep Zfhx1a ClinVar:ZEB1 Ensembl:ENSG00000148516 Genatlas:ZEB1 HGNC:11642 OMIM:189909 Reactome:P37275 SwissProt:P37275 ZEB1 zinc finger E-box binding homeobox 1 2q22.3 KIAA0569 SIP-1 SIP1 SMAD interacting protein 1 ClinVar:ZEB2 Ensembl:ENSG00000169554 Genatlas:ZEB2 HGNC:14881 OMIM:605802 Reactome:O60315 SwissProt:O60315 ZEB2 zinc finger E-box binding homeobox 2 8q23 FOG2 ZC2HC11B ZNF89B hFOG-2 ClinVar:ZFPM2 Ensembl:ENSG00000169946 Genatlas:ZFPM2 HGNC:16700 OMIM:603693 Reactome:Q8WW38 SwissProt:Q8WW38 ZFPM2 zinc finger protein, FOG family member 2 3q24 ZIC ZNF201 ClinVar:ZIC1 Ensembl:ENSG00000152977 Genatlas:ZIC1 HGNC:12872 OMIM:600470 Reactome:Q15915 SwissProt:Q15915 ZIC1 Zic family member 1 13q32.3 HPE5 Zinc finger protein of the cerebellum 2 ClinVar:ZIC2 Ensembl:ENSG00000043355 Genatlas:ZIC2 HGNC:12873 OMIM:603073 SwissProt:O95409 ZIC2 Zic family member 2 Xq26.3 HTX ZNF203 ClinVar:ZIC3 Ensembl:ENSG00000156925 Genatlas:ZIC3 HGNC:12874 OMIM:300265 Reactome:O60481 SwissProt:O60481 ZIC3 Zic family member 3 3q24 ClinVar:ZIC4 Ensembl:ENSG00000174963 Genatlas:ZIC4 HGNC:20393 OMIM:608948 SwissProt:Q8N9L1 ZIC4 Zic family member 4 1p34.2 CAAX prenyl protease 1 homolog FACE-1 HGPS Hutchinson-Gilford progeria syndrome PRO1 STE24 Ste24p ClinVar:ZMPSTE24 Ensembl:ENSG00000084073 Genatlas:ZMPSTE24 HGNC:12877 OMIM:606480 Reactome:O75844 SwissProt:O75844 ZMPSTE24 zinc metallopeptidase STE24 3q28 HOMG3 PCLN1 hypomagnesemia 3, with hypercalciuria and nephrocalcinosis paracellin-1 ClinVar:CLDN16 Ensembl:ENSG00000113946 Genatlas:CLDN16 HGNC:2037 OMIM:603959 Reactome:Q9Y5I7 SwissProt:Q9Y5I7 CLDN16 claudin 16 1p34.2 ClinVar:CLDN19 Ensembl:ENSG00000164007 Genatlas:CLDN19 HGNC:2040 OMIM:610036 Reactome:Q8N6F1 SwissProt:Q8N6F1 CLDN19 claudin 19 7q11.23 CLIP CLIP-115 KIAA0291 WSCR3 WSCR4 ClinVar:CLIP2 Ensembl:ENSG00000106665 Genatlas:CLIP2 HGNC:2586 OMIM:603432 SwissProt:Q9UDT6 CLIP2 CAP-Gly domain containing linker protein 2 16p12.1 BTN1 JNCL SLC29B1 juvenile neuronal ceroid lipofuscinosis ClinVar:CLN3 Ensembl:ENSG00000188603 Genatlas:CLN3 HGNC:2074 OMIM:607042 SwissProt:Q13286 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin 13q22.3 ClinVar:CLN5 Ensembl:ENSG00000102805 Genatlas:CLN5 HGNC:2076 OMIM:608102 SwissProt:O75503 CLN5 CLN5 intracellular trafficking protein 15q23 FLJ20561 HsT18960 nclf ClinVar:CLN6 Ensembl:ENSG00000128973 Genatlas:CLN6 HGNC:2077 OMIM:606725 Reactome:Q9NWW5 SwissProt:Q9NWW5 CLN6 CLN6 transmembrane ER protein 8p23.3 FLJ39417 TLCD6 ClinVar:CLN8 Ensembl:ENSG00000182372 Genatlas:CLN8 HGNC:2079 OMIM:607837 SwissProt:Q9UBY8 CLN8 CLN8 transmembrane ER and ERGIC protein 3q25.1 ClinVar:CLRN1 Ensembl:ENSG00000163646 Genatlas:CLRN1 HGNC:12605 OMIM:606397 SwissProt:P58418 CLRN1 clarin 1 3q21.3 CNBP1 RNF163 ZCCHC22 ClinVar:CNBP Ensembl:ENSG00000169714 Genatlas:CNBP HGNC:13164 OMIM:116955 Reactome:P62633 SwissProt:P62633 CNBP CCHC-type zinc finger nucleic acid binding protein 4p12 CNG1 RCNC1 RCNCa RP49 cGMP-gated cation channel alpha-1 ClinVar:CNGA1 Ensembl:ENSG00000198515 Genatlas:CNGA1 HGNC:2148 IUPHAR:394 OMIM:123825 Reactome:P29973 SwissProt:P29973 CNGA1 cyclic nucleotide gated channel subunit alpha 1 2q11.2 CCNC1 CCNCa CNG3 ClinVar:CNGA3 Ensembl:ENSG00000144191 Genatlas:CNGA3 HGNC:2150 IUPHAR:396 OMIM:600053 SwissProt:Q16281 CNGA3 cyclic nucleotide gated channel subunit alpha 3 8q21.3 ClinVar:CNGB3 Ensembl:ENSG00000170289 Genatlas:CNGB3 HGNC:2153 IUPHAR:399 OMIM:605080 SwissProt:Q9NQW8 CNGB3 cyclic nucleotide gated channel subunit beta 3 14q12 COCH-5B2 ClinVar:COCH Ensembl:ENSG00000100473 Genatlas:COCH HGNC:2180 OMIM:603196 SwissProt:O43405 COCH cochlin 16p12.2 ClinVar:COG7 Ensembl:ENSG00000168434 Genatlas:COG7 HGNC:18622 OMIM:606978 Reactome:P83436 SwissProt:P83436 COG7 component of oligomeric golgi complex 7 6q22.1 Schmid metaphyseal chondrodysplasia ClinVar:COL10A1 Ensembl:ENSG00000123500 Genatlas:COL10A1 HGNC:2185 OMIM:120110 Reactome:Q03692 SwissProt:Q03692 COL10A1 collagen type X alpha 1 chain 1p21.1 CO11A1 STL2 collagen XI, alpha-1 polypeptide ClinVar:COL11A1 Ensembl:ENSG00000060718 Genatlas:COL11A1 HGNC:2186 OMIM:120280 Reactome:P12107 SwissProt:P12107 COL11A1 collagen type XI alpha 1 chain 6p21.32 HKE5 ClinVar:COL11A2 Ensembl:ENSG00000204248 Genatlas:COL11A2 HGNC:2187 OMIM:120290 Reactome:P13942 SwissProt:P13942 COL11A2 collagen type XI alpha 2 chain 10q25.1 BP180 ClinVar:COL17A1 Ensembl:ENSG00000065618 Genatlas:COL17A1 HGNC:2194 OMIM:113811 Reactome:Q9UMD9 SwissProt:Q9UMD9 COL17A1 collagen type XVII alpha 1 chain Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot. Orphanet ICD-10:Q25.5 ICD-11:LA88.21 MONDO:0008343 MeSH:C562833 OMIM:178370 UMLS:C0344976 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1207 Pulmonary atresia with ventricular septal defect ORPHA:1207 ICD-10:Q25.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA88.21 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0008343 E (Exact mapping: the two concepts are equivalent) MeSH:C562833 E (Exact mapping: the two concepts are equivalent) OMIM:178370 E (Exact mapping: the two concepts are equivalent) UMLS:C0344976 E (Exact mapping: the two concepts are equivalent) 21q22.3 KNO1 KS endostatin ClinVar:COL18A1 Ensembl:ENSG00000182871 Genatlas:COL18A1 HGNC:2195 OMIM:120328 Reactome:P39060 SwissProt:P39060 COL18A1 collagen type XVIII alpha 1 chain 17q21.33 OI4 ClinVar:COL1A1 Ensembl:ENSG00000108821 Genatlas:COL1A1 HGNC:2197 OMIM:120150 Reactome:P02452 SwissProt:P02452 COL1A1 collagen type I alpha 1 chain 7q21.3 alpha 2(I)-collagen alpha-2 collagen type I collagen I, alpha-2 polypeptide collagen of skin, tendon and bone, alpha-2 chain type I procollagen ClinVar:COL1A2 Ensembl:ENSG00000164692 Genatlas:COL1A2 HGNC:2198 OMIM:120160 Reactome:P08123 SwissProt:P08123 COL1A2 collagen type I alpha 2 chain 12q13.11 STL1 ClinVar:COL2A1 Ensembl:ENSG00000139219 Genatlas:COL2A1 HGNC:2200 OMIM:120140 Reactome:P02458 SwissProt:P02458 COL2A1 collagen type II alpha 1 chain 2q32.2 ClinVar:COL3A1 Ensembl:ENSG00000168542 Genatlas:COL3A1 HGNC:2201 OMIM:120180 Reactome:P02461 SwissProt:P02461 COL3A1 collagen type III alpha 1 chain 13q34 ClinVar:COL4A1 Ensembl:ENSG00000187498 Genatlas:COL4A1 HGNC:2202 OMIM:120130 Reactome:P02462 SwissProt:P02462 COL4A1 collagen type IV alpha 1 chain 2q36.3 tumstatin ClinVar:COL4A3 Ensembl:ENSG00000169031 Genatlas:COL4A3 HGNC:2204 OMIM:120070 Reactome:Q01955 SwissProt:Q01955 COL4A3 collagen type IV alpha 3 chain 2q36.3 CA44 collagen of basement membrane, alpha-4 chain ClinVar:COL4A4 Ensembl:ENSG00000081052 Genatlas:COL4A4 HGNC:2206 OMIM:120131 Reactome:P53420 SwissProt:P53420 COL4A4 collagen type IV alpha 4 chain Xq22.3 ClinVar:COL4A5 Ensembl:ENSG00000188153 Genatlas:COL4A5 HGNC:2207 OMIM:303630 Reactome:P29400 SwissProt:P29400 COL4A5 collagen type IV alpha 5 chain Xq22.3 ClinVar:COL4A6 Ensembl:ENSG00000197565 Genatlas:COL4A6 HGNC:2208 OMIM:303631 Reactome:Q14031 SwissProt:Q14031 COL4A6 collagen type IV alpha 6 chain 9q34.3 alpha 1 type V collagen ClinVar:COL5A1 Ensembl:ENSG00000130635 Genatlas:COL5A1 HGNC:2209 OMIM:120215 Reactome:P20908 SwissProt:P20908 COL5A1 collagen type V alpha 1 chain 2q32.2 AB collagen ClinVar:COL5A2 Ensembl:ENSG00000204262 Genatlas:COL5A2 HGNC:2210 OMIM:120190 Reactome:P05997 SwissProt:P05997 COL5A2 collagen type V alpha 2 chain 21q22.3 ClinVar:COL6A1 Ensembl:ENSG00000142156 Genatlas:COL6A1 HGNC:2211 OMIM:120220 Reactome:P12109 SwissProt:P12109 COL6A1 collagen type VI alpha 1 chain 21q22.3 ClinVar:COL6A2 Ensembl:ENSG00000142173 Genatlas:COL6A2 HGNC:2212 OMIM:120240 Reactome:P12110 SwissProt:P12110 COL6A2 collagen type VI alpha 2 chain 2q37.3 ClinVar:COL6A3 Ensembl:ENSG00000163359 Genatlas:COL6A3 HGNC:2213 OMIM:120250 Reactome:P12111 SwissProt:P12111 COL6A3 collagen type VI alpha 3 chain 3p21.31 LC collagen collagen VII, alpha-1 polypeptide ClinVar:COL7A1 Ensembl:ENSG00000114270 Genatlas:COL7A1 HGNC:2214 OMIM:120120 Reactome:Q02388 SwissProt:Q02388 COL7A1 collagen type VII alpha 1 chain 1p34.3 FECD1 PPCD PPCD2 ClinVar:COL8A2 Ensembl:ENSG00000171812 Genatlas:COL8A2 HGNC:2216 OMIM:120252 Reactome:P25067 SwissProt:P25067 COL8A2 collagen type VIII alpha 2 chain 6q13 ClinVar:COL9A1 Ensembl:ENSG00000112280 Genatlas:COL9A1 HGNC:2217 OMIM:120210 Reactome:P20849 SwissProt:P20849 COL9A1 collagen type IX alpha 1 chain 1p34.2 MED ClinVar:COL9A2 Ensembl:ENSG00000049089 Genatlas:COL9A2 HGNC:2218 OMIM:120260 Reactome:Q14055 SwissProt:Q14055 COL9A2 collagen type IX alpha 2 chain 20q13.33 DJ885L7.4.1 EDM3 FLJ90759 IDD MED collagen type IX proteoglycan ClinVar:COL9A3 Ensembl:ENSG00000092758 Genatlas:COL9A3 HGNC:2219 OMIM:120270 Reactome:Q14050 SwissProt:Q14050 COL9A3 collagen type IX alpha 3 chain 3p25.1 AChE Q subunit EAD acetylcholinesterase-associated collagen collagenic tail of endplate acetylcholinesterase single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase ClinVar:COLQ Ensembl:ENSG00000206561 Genatlas:COLQ HGNC:2226 OMIM:603033 SwissProt:Q9Y215 COLQ collagen like tail subunit of asymmetric acetylcholinesterase 19p13.11 MED THBS5 TSP-5 TSP5 multiple epiphyseal dysplasia thrombospondin-5 ClinVar:COMP Ensembl:ENSG00000105664 Genatlas:COMP HGNC:2227 OMIM:600310 Reactome:P49747 SwissProt:P49747 COMP cartilage oligomeric matrix protein 4q21.23 4-hydroxybenzoate polyprenyltransferase CL640 FLJ26072 ClinVar:COQ2 Ensembl:ENSG00000173085 Genatlas:COQ2 HGNC:25223 OMIM:609825 Reactome:Q96H96 SwissProt:Q96H96 COQ2 coenzyme Q2, polyprenyltransferase 17p12 heme O synthase protoheme IX farnesyltransferase, mitochondrial ClinVar:COX10 Ensembl:ENSG00000006695 Genatlas:COX10 HGNC:2260 OMIM:602125 Reactome:Q12887 SwissProt:Q12887 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 10q24.2 CEMCOX2 ClinVar:COX15 Ensembl:ENSG00000014919 Genatlas:COX15 HGNC:2263 OMIM:603646 Reactome:Q7KZN9 SwissProt:Q7KZN9 COX15 cytochrome c oxidase assembly homolog COX15 3q24-q25.1 AB073614 caeruloplasmin ferroxidase ClinVar:CP Ensembl:ENSG00000047457 Genatlas:CP HGNC:2295 OMIM:117700 Reactome:P00450 SwissProt:P00450 CP ceruloplasmin 8q13.2 CPAH ClinVar:CPA6 Ensembl:ENSG00000165078 Genatlas:CPA6 HGNC:17245 IUPHAR:1592 OMIM:609562 SwissProt:Q8N4T0 CPA6 carboxypeptidase A6 3q11.2 CPX HCP coproporphyria homozygous coproporphyria ClinVar:CPOX Ensembl:ENSG00000080819 Genatlas:CPOX HGNC:2321 OMIM:612732 Reactome:P36551 SwissProt:P36551 CPOX coproporphyrinogen oxidase 2q34 GATD6 carbamoyl-phosphate synthase (ammonia) ClinVar:CPS1 Ensembl:ENSG00000021826 Genatlas:CPS1 HGNC:2323 OMIM:608307 Reactome:P31327 SwissProt:P31327 CPS1 carbamoyl-phosphate synthase 1 11q13.3 CPT1-L L-CPT1 ClinVar:CPT1A Ensembl:ENSG00000110090 Genatlas:CPT1A HGNC:2328 IUPHAR:3249 OMIM:600528 Reactome:P50416 SwissProt:P50416 CPT1A carnitine palmitoyltransferase 1A 1p32.3 CPTASE ClinVar:CPT2 Ensembl:ENSG00000157184 Genatlas:CPT2 HGNC:2330 IUPHAR:3252 OMIM:600650 Reactome:P23786 SwissProt:P23786 CPT2 carnitine palmitoyltransferase 2 A rare cardiac malformation characterized by congenital either membranous or long segment muscular atresia of the right ventricular outflow tract in the absence of communication at the level of ventricles. The spectrum ranges from simple membranous pulmonary atresia with normal-appearing right ventricle (RV) to hypoplastic RV with abnormal connections between the RV and coronary arteries. Major presenting symptoms are cyanosis and desaturation. Orphanet ICD-10:Q22.6 ICD-11:LA8A.10 MONDO:0009931 MeSH:C562832 OMIM:265150 UMLS:C0344975 Antenatal Infancy Neonatal Sweden AND has_birth_prevalence_average_value : 4.2 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_range : Unknown United Kingdom AND has_birth_prevalence_average_value : 4.5 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1208 Pulmonary atresia-intact ventricular septum syndrome ORPHA:1208 ICD-10:Q22.6 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8A.10 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0009931 E (Exact mapping: the two concepts are equivalent) MeSH:C562832 E (Exact mapping: the two concepts are equivalent) OMIM:265150 E (Exact mapping: the two concepts are equivalent) UMLS:C0344975 E (Exact mapping: the two concepts are equivalent) 1q31.3 LCA8 ClinVar:CRB1 Ensembl:ENSG00000134376 Genatlas:CRB1 HGNC:2343 OMIM:604210 Reactome:P82279 SwissProt:P82279 CRB1 crumbs cell polarity complex component 1 3p26.2 MRT2 ClinVar:CRBN Ensembl:ENSG00000113851 Genatlas:CRBN HGNC:30185 IUPHAR:3086 OMIM:609262 SwissProt:Q96SW2 CRBN cereblon 16p13.3 CBP KAT3A RTS ClinVar:CREBBP Ensembl:ENSG00000005339 Genatlas:CREBBP HGNC:2348 IUPHAR:2734 OMIM:600140 Reactome:Q92793 SwissProt:Q92793 CREBBP CREB binding lysine acetyltransferase 3p25.3 CIRRIN ClinVar:CRELD1 Ensembl:ENSG00000163703 Genatlas:CRELD1 HGNC:14630 OMIM:607170 SwissProt:Q96HD1 CRELD1 cysteine rich with EGF like domains 1 19q13.33 CRD LCA7 OTX3 orthodenticle homeobox 3 ClinVar:CRX Ensembl:ENSG00000105392 Genatlas:CRX HGNC:2383 OMIM:602225 Reactome:O43186 SwissProt:O43186 CRX cone-rod homeobox 21q22.3 HSPB4 ClinVar:CRYAA Ensembl:ENSG00000160202 Genatlas:CRYAA HGNC:2388 OMIM:123580 SwissProt:P02489 CRYAA crystallin alpha A 11q23.1 HSPB5 ClinVar:CRYAB Ensembl:ENSG00000109846 Genatlas:CRYAB HGNC:2389 OMIM:123590 Reactome:P02511 SwissProt:P02511 CRYAB crystallin alpha B 17q11.2 eye lens structural protein ClinVar:CRYBA1 Ensembl:ENSG00000108255 Genatlas:CRYBA1 HGNC:2394 OMIM:123610 Reactome:P05813 SwissProt:P05813 CRYBA1 crystallin beta A1 22q12.1 ClinVar:CRYBA4 Ensembl:ENSG00000196431 Genatlas:CRYBA4 HGNC:2396 OMIM:123631 Reactome:P53673 SwissProt:P53673 CRYBA4 crystallin beta A4 22q11.23 ClinVar:CRYBB2 Ensembl:ENSG00000244752 Genatlas:CRYBB2 HGNC:2398 OMIM:123620 SwissProt:P43320 CRYBB2 crystallin beta B2 22q11.23 ClinVar:CRYBB3 Ensembl:ENSG00000100053 Genatlas:CRYBB3 HGNC:2400 OMIM:123630 SwissProt:P26998 CRYBB3 crystallin beta B3 2q33.3 ClinVar:CRYGC Ensembl:ENSG00000163254 Genatlas:CRYGC HGNC:2410 OMIM:123680 SwissProt:P07315 CRYGC crystallin gamma C 2q33.3 ClinVar:CRYGD Ensembl:ENSG00000118231 Genatlas:CRYGD HGNC:2411 OMIM:123690 SwissProt:P07320 CRYGD crystallin gamma D 22q12.3 CD131 IL5RB beta common cytokine receptor beta-GM-CSF receptor betaGMR ClinVar:CSF2RB Ensembl:ENSG00000100368 Genatlas:CSF2RB HGNC:2436 IUPHAR:2306 OMIM:138981 Reactome:P32927 SwissProt:P32927 CSF2RB colony stimulating factor 2 receptor subunit beta 11p15.1 CLP CMD1M MLP cardiac LIM protein muscle LIM protein ClinVar:CSRP3 Ensembl:ENSG00000129170 Genatlas:CSRP3 HGNC:2472 OMIM:600824 SwissProt:P50461 CSRP3 cysteine and glycine rich protein 3 20p11.21 ClinVar:CST3 Ensembl:ENSG00000101439 Genatlas:CST3 HGNC:2475 OMIM:604312 Reactome:P01034 SwissProt:P01034 CST3 cystatin C 21q22.3 CST6 Epilepsy, progressive myoclonic 1 PME stefin B ClinVar:CSTB Ensembl:ENSG00000160213 Genatlas:CSTB HGNC:2482 OMIM:601145 Reactome:P04080 SwissProt:P04080 CSTB cystatin B 18q23 FCP1 ClinVar:CTDP1 Ensembl:ENSG00000060069 Genatlas:CTDP1 HGNC:2498 OMIM:604927 Reactome:Q9Y5B0 SwissProt:Q9Y5B0 CTDP1 CTD phosphatase subunit 1 1p31.1 CSE ClinVar:CTH Ensembl:ENSG00000116761 Genatlas:CTH HGNC:2501 IUPHAR:1444 OMIM:607657 Reactome:P32929 SwissProt:P32929 CTH cystathionine gamma-lyase 2q33.2 CD CD152 CTLA-4 GSE celiac disease gluten-sensitive enteropathy ClinVar:CTLA4 Ensembl:ENSG00000163599 Genatlas:CTLA4 HGNC:2505 IUPHAR:2743 OMIM:123890 Reactome:P16410 SwissProt:P16410 CTLA4 cytotoxic T-lymphocyte associated protein 4 3p22.1 armadillo beta-catenin ClinVar:CTNNB1 Ensembl:ENSG00000168036 Genatlas:CTNNB1 HGNC:2514 OMIM:116806 Reactome:P35222 SwissProt:P35222 CTNNB1 catenin beta 1 17p13.2 CTNS-LSB PQLC4 SLC66A4 ClinVar:CTNS Ensembl:ENSG00000040531 Genatlas:CTNS HGNC:2518 IUPHAR:3163 OMIM:606272 Reactome:O60931 SwissProt:O60931 CTNS cystinosin, lysosomal cystine transporter 20q13.12 carboxypeptidase C carboxypeptidase Y-like kininase carboxypeptidase-L deamidase lysosomal carboxypeptidase A lysosomal protective protein urinary kininase ClinVar:CTSA Ensembl:ENSG00000064601 Genatlas:CTSA HGNC:9251 IUPHAR:1581 OMIM:613111 Reactome:P10619 SwissProt:P10619 CTSA cathepsin A 11q14.2 DPP1 dipeptidyl peptidase 1 ClinVar:CTSC Ensembl:ENSG00000109861 Genatlas:CTSC HGNC:2528 IUPHAR:2344 OMIM:602365 Reactome:P53634 SwissProt:P53634 CTSC cathepsin C 1q21.3 PKND ClinVar:CTSK Ensembl:ENSG00000143387 Genatlas:CTSK HGNC:2536 IUPHAR:2350 OMIM:601105 Reactome:P43235 SwissProt:P43235 CTSK cathepsin K A rare congenital heart malformation characterized by absence of the tricuspid valuvar annulus (absent right atrioventricular connection/junction) or an imperforate tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular heart). The malformation is associated with normally related great arteries (70 to 80% of cases) or transposed great vessels, an obligatory interatrial connection that is crucial for survival (patent oval foramen or atrial septal defect ostium secundum type), ventricular septal defect (VSD), pulmonary outflow obstruction (pulmonary atresia, stenosis or hypoplasia), aortic coarctation and/or aortic arch interruption. Orphanet ICD-10:Q22.4 ICD-11:LA89.1 MONDO:0011514 MeSH:D018785 MedDRA:10049767 OMIM:605067 UMLS:C0243002 Not applicable Antenatal Neonatal Belgium AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000 Czech Republic AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 5.5625 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 9.0 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 Ireland AND has_birth_prevalence_average_value : 10.5 AND has_birth_prevalence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 6.5 AND has_birth_prevalence_range : 1-9 / 100 000 Malta AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 3.3 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Portugal AND has_birth_prevalence_average_value : 11.1 AND has_birth_prevalence_range : 1-5 / 10 000 Slovakia AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 12.6 AND has_birth_prevalence_range : 1-5 / 10 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 4.6 AND has_birth_prevalence_range : 1-9 / 100 000 Ukraine AND has_birth_prevalence_average_value : 9.7 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1209 Tricuspid atresia ORPHA:1209 ICD-10:Q22.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA89.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0011514 E (Exact mapping: the two concepts are equivalent) MeSH:D018785 E (Exact mapping: the two concepts are equivalent) MedDRA:10049767 E (Exact mapping: the two concepts are equivalent) OMIM:605067 E (Exact mapping: the two concepts are equivalent) UMLS:C0243002 E (Exact mapping: the two concepts are equivalent) 10p13 IFCR gp280 intrinsic factor-cobalamin receptor ClinVar:CUBN Ensembl:ENSG00000107611 Genatlas:CUBN HGNC:2548 OMIM:602997 Reactome:O60494 SwissProt:O60494 CUBN cubilin Xq24 ClinVar:CUL4B Ensembl:ENSG00000158290 Genatlas:CUL4B HGNC:2555 OMIM:300304 Reactome:Q13620 SwissProt:Q13620 CUL4B cullin 4B 6p21.1 dJ20C7.5 ClinVar:CUL7 Ensembl:ENSG00000044090 Genatlas:CUL7 HGNC:21024 OMIM:609577 Reactome:Q14999 SwissProt:Q14999 CUL7 cullin 7 2q22.1 CD184 D2S201E HM89 HSY3RR LESTR NPY3R NPYR NPYY3R fusin ClinVar:CXCR4 Ensembl:ENSG00000121966 Genatlas:CXCR4 HGNC:2561 IUPHAR:71 OMIM:162643 Reactome:P61073 SwissProt:P61073 CXCR4 C-X-C motif chemokine receptor 4 18q22.3 MCB5 Microsomal cytochrome b5 ClinVar:CYB5A Ensembl:ENSG00000166347 Genatlas:CYB5A HGNC:2570 OMIM:613218 Reactome:P00167 SwissProt:P00167 CYB5A cytochrome b5 type A 22q13.2 B5R NADH-cytochrome b5 reductase 3 ClinVar:CYB5R3 Ensembl:ENSG00000100243 Genatlas:CYB5R3 HGNC:2873 OMIM:613213 Reactome:P00387 SwissProt:P00387 CYB5R3 cytochrome b5 reductase 3 Xp21.1-p11.4 Cytochrome b-245 heavy chain Cytochrome b558 subunit beta GP91-PHOX GP91PHOX NADPH oxidase 2 NOX2 p91-PHOX ClinVar:CYBB Ensembl:ENSG00000165168 Genatlas:CYBB HGNC:2578 IUPHAR:3002 OMIM:300481 Reactome:P04839 SwissProt:P04839 CYBB cytochrome b-245 beta chain 16q12.1 KIAA0849 USPL2 ubiquitin specific peptidase like 2 ClinVar:CYLD Ensembl:ENSG00000083799 Genatlas:CYLD HGNC:2584 OMIM:605018 Reactome:Q9NQC7 SwissProt:Q9NQC7 CYLD CYLD lysine 63 deubiquitinase 15q24.1 P450SCC cholesterol monooxygenase (side-chain-cleaving) ClinVar:CYP11A1 Ensembl:ENSG00000140459 Genatlas:CYP11A1 HGNC:2590 IUPHAR:1358 OMIM:118485 Reactome:P05108 SwissProt:P05108 CYP11A1 cytochrome P450 family 11 subfamily A member 1 8q24.3 CPN1 FHI P450C11 steroid 11-beta-monooxygenase ClinVar:CYP11B1 Ensembl:ENSG00000160882 Genatlas:CYP11B1 HGNC:2591 IUPHAR:1359 OMIM:610613 Reactome:P15538 SwissProt:P15538 CYP11B1 cytochrome P450 family 11 subfamily B member 1 8q24.3 ALDOS CPN2 CYP11BL P-450C18 P450aldo steroid 11-beta-monooxygenase ClinVar:CYP11B2 Ensembl:ENSG00000179142 Genatlas:CYP11B2 HGNC:2592 IUPHAR:1360 OMIM:124080 Reactome:P19099 SwissProt:P19099 CYP11B2 cytochrome P450 family 11 subfamily B member 2 10q24.32 CPT7 P450C17 S17AH Steroid 17-alpha-monooxygenase ClinVar:CYP17A1 Ensembl:ENSG00000148795 Genatlas:CYP17A1 HGNC:2593 IUPHAR:1361 OMIM:609300 Reactome:P05093 SwissProt:P05093 CYP17A1 cytochrome P450 family 17 subfamily A member 1 15q21.2 ARO ARO1 CPV1 CYAR P-450AROM aromatase ClinVar:CYP19A1 Ensembl:ENSG00000137869 Genatlas:CYP19A1 HGNC:2594 IUPHAR:1362 OMIM:107910 Reactome:P11511 SwissProt:P11511 CYP19A1 cytochrome P450 family 19 subfamily A member 1 2p22.2 CP1B ClinVar:CYP1B1 Ensembl:ENSG00000138061 Genatlas:CYP1B1 HGNC:2597 IUPHAR:1320 OMIM:601771 Reactome:Q16678 SwissProt:Q16678 CYP1B1 cytochrome P450 family 1 subfamily B member 1 6p21.33 CA21H CAH1 CPS1 P450c21B Steroid 21-monooxygenase ClinVar:CYP21A2 Ensembl:ENSG00000231852 Genatlas:CYP21A2 HGNC:2600 IUPHAR:1364 OMIM:613815 Reactome:P08686 SwissProt:P08686 CYP21A2 cytochrome P450 family 21 subfamily A member 2 2q35 CP27 CTX cerebrotendinous xanthomatosis ClinVar:CYP27A1 Ensembl:ENSG00000135929 Genatlas:CYP27A1 HGNC:2605 IUPHAR:1369 OMIM:606530 Reactome:Q02318 SwissProt:Q02318 CYP27A1 cytochrome P450 family 27 subfamily A member 1 12q14.1 1alpha(OH)ase 25-Hydroxyvitamin D3 1alpha-hydroxylase CYP1 Calcidiol 1-monooxygenase P450c1 VDDR I ClinVar:CYP27B1 Ensembl:ENSG00000111012 Genatlas:CYP27B1 HGNC:2606 IUPHAR:1370 OMIM:609506 Reactome:O15528 SwissProt:O15528 CYP27B1 cytochrome P450 family 27 subfamily B member 1 11p15.2 Vitamin D 25-hydroxylase ClinVar:CYP2R1 Ensembl:ENSG00000186104 Genatlas:CYP2R1 HGNC:20580 IUPHAR:1333 OMIM:608713 Reactome:Q6VVX0 SwissProt:Q6VVX0 CYP2R1 cytochrome P450 family 2 subfamily R member 1 4q35.1-q35.2 CYP4AH1 ClinVar:CYP4V2 Ensembl:ENSG00000145476 Genatlas:CYP4V2 HGNC:23198 IUPHAR:1350 OMIM:608614 Reactome:Q6ZWL3 SwissProt:Q6ZWL3 CYP4V2 cytochrome P450 family 4 subfamily V member 2 8q12.3 ClinVar:CYP7B1 Ensembl:ENSG00000172817 Genatlas:CYP7B1 HGNC:2652 IUPHAR:1355 OMIM:603711 Reactome:O75881 SwissProt:O75881 CYP7B1 cytochrome P450 family 7 subfamily B member 1 2q37.3 D2HGD FLJ42195 MGC25181 ClinVar:D2HGDH Ensembl:ENSG00000180902 Genatlas:D2HGDH HGNC:28358 OMIM:609186 Reactome:Q8N465 SwissProt:Q8N465 D2HGDH D-2-hydroxyglutarate dehydrogenase Yq11.223 SPGY ClinVar:DAZ1 Ensembl:ENSG00000188120 Genatlas:DAZ1 HGNC:2682 OMIM:400003 SwissProt:Q9NQZ3 DAZ1 deleted in azoospermia 1 Yq11.223 MGC126442 pDP1678 ClinVar:DAZ2 Ensembl:ENSG00000205944 Genatlas:DAZ2 HGNC:15964 OMIM:400026 SwissProt:Q13117 DAZ2 deleted in azoospermia 2 Yq11.23 ClinVar:DAZ3 Ensembl:ENSG00000187191 Genatlas:DAZ3 HGNC:15965 OMIM:400027 SwissProt:Q9NR90 DAZ3 deleted in azoospermia 3 Yq11.23 ClinVar:DAZ4 Ensembl:ENSG00000205916 Genatlas:DAZ4 HGNC:15966 OMIM:400048 SwissProt:Q86SG3 DAZ4 deleted in azoospermia 4 9q34.2 DBM dopamine beta-monooxygenase ClinVar:DBH Ensembl:ENSG00000123454 Genatlas:DBH HGNC:2689 IUPHAR:2486 OMIM:609312 Reactome:P09172 SwissProt:P09172 DBH dopamine beta-hydroxylase 1p21.2 BCKAD-E2 BCKDH-E2 BCOADC-E2 branched chain 2-oxo-acid dehydrogenase complex component E2 dihydrolipoyllysine-residue (2-methylpropanoyl)transferase lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial ClinVar:DBT Ensembl:ENSG00000137992 Genatlas:DBT HGNC:2698 OMIM:248610 Reactome:P11182 SwissProt:P11182 DBT dihydrolipoamide branched chain transacylase E2 10p13 A-SCID ARTEMIS FLJ11360 PSO2 homolog (S. cerevisiae) SNM1C ClinVar:DCLRE1C Ensembl:ENSG00000152457 Genatlas:DCLRE1C HGNC:17642 OMIM:605988 Reactome:Q96SD1 SwissProt:Q96SD1 DCLRE1C DNA cross-link repair 1C 12q21.33 DSPG2 SLRR1B decorin proteoglycan ClinVar:DCN Ensembl:ENSG00000011465 Genatlas:DCN HGNC:2705 OMIM:125255 Reactome:P07585 SwissProt:P07585 DCN decorin Xq23 DBCN DC LISX SCLH XLIS doublecortex ClinVar:DCX Ensembl:ENSG00000077279 Genatlas:DCX HGNC:2714 OMIM:300121 Reactome:O43602 SwissProt:O43602 DCX doublecortin 11p11.2 DDB p48 subunit DDBB FLJ34321 UV-DDB2 UV-damaged DNA-binding protein 2 XPE xeroderma pigmentosum group E protein ClinVar:DDB2 Ensembl:ENSG00000134574 Genatlas:DDB2 HGNC:2718 OMIM:600811 Reactome:Q92466 SwissProt:Q92466 DDB2 damage specific DNA binding protein 2 7p12.2-p12.1 AADC aromatic L-amino acid decarboxylase ClinVar:DDC Ensembl:ENSG00000132437 Genatlas:DDC HGNC:2719 IUPHAR:1271 OMIM:107930 Reactome:P20711 SwissProt:P20711 DDC dopa decarboxylase 2q35 CMD1I CSM1 CSM2 LGMD2R cardiomyopathy, dilated 1I intermediate filament protein ClinVar:DES Ensembl:ENSG00000175084 Genatlas:DES HGNC:2770 OMIM:125660 Reactome:P17661 SwissProt:P17661 DES desmin 7p15.3 ICERE-1 inversely correlated with estrogen receptor expression ClinVar:DFNA5 Ensembl:ENSG00000105928 Genatlas:DFNA5 HGNC:2810 OMIM:608798 SwissProt:O60443 GSDME gasdermin E 2p13.1 dGK ClinVar:DGUOK Ensembl:ENSG00000114956 Genatlas:DGUOK HGNC:2858 OMIM:601465 Reactome:Q16854 SwissProt:Q16854 DGUOK deoxyguanosine kinase 1p32.3 3beta-hydroxysterol delta24 reductase Delta(24)-sterol reductase KIAA0018 seladin-1 ClinVar:DHCR24 Ensembl:ENSG00000116133 Genatlas:DHCR24 HGNC:2859 OMIM:606418 Reactome:Q15392 SwissProt:Q15392 DHCR24 24-dehydrocholesterol reductase 11q13.4 ClinVar:DHCR7 Ensembl:ENSG00000172893 Genatlas:DHCR7 HGNC:2860 OMIM:602858 Reactome:Q9UBM7 SwissProt:Q9UBM7 DHCR7 7-dehydrocholesterol reductase 12q13.12 HHG-3 MGC35145 ClinVar:DHH Ensembl:ENSG00000139549 Genatlas:DHH HGNC:2865 OMIM:605423 Reactome:O43323 SwissProt:O43323 DHH desert hedgehog signaling molecule 5q31.3 LFHL1 hDIA1 mDia1 mammalian diaphanous related formin 1 ClinVar:DIAPH1 Ensembl:ENSG00000131504 Genatlas:DIAPH1 HGNC:2876 OMIM:602121 Reactome:O60610 SwissProt:O60610 DIAPH1 diaphanous related formin 1 Xq28 Cbf5 H/ACA ribonucleoprotein complex subunit 4 NAP57 NOLA4 XAP101 dyskerin ClinVar:DKC1 Ensembl:ENSG00000130826 Genatlas:DKC1 HGNC:2890 OMIM:300126 Reactome:O60832 SwissProt:O60832 DKC1 dyskerin pseudouridine synthase 1 11q23.1 E2 E2 component of pyruvate dehydrogenase complex PDC-E2 dihydrolipoyllysine-residue acetyltransferase dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial ClinVar:DLAT Ensembl:ENSG00000150768 Genatlas:DLAT HGNC:2896 OMIM:608770 Reactome:P10515 SwissProt:P10515 DLAT dihydrolipoamide S-acetyltransferase This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Atrichia with papular lesions OBSOLETE: Atrichia-intellectual disability and growth delay syndrome ORPHA:1211 7q31.1 DLDH E3 E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex OGDC-E3 pyruvate dehydrogenase complex subunit E3, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex, glycine cleavage system protein L ClinVar:DLD Ensembl:ENSG00000091140 Genatlas:DLD HGNC:2898 OMIM:238331 Reactome:P09622 SwissProt:P09622 DLD dihydrolipoamide dehydrogenase 19q13.2 SCDO1 ClinVar:DLL3 Ensembl:ENSG00000090932 Genatlas:DLL3 HGNC:2909 OMIM:602768 SwissProt:Q9NYJ7 DLL3 delta like canonical Notch ligand 3 17q21.33 ClinVar:DLX3 Ensembl:ENSG00000064195 Genatlas:DLX3 HGNC:2916 OMIM:600525 SwissProt:O60479 DLX3 distal-less homeobox 3 Xp21.2-p21.1 BMD DXS142 DXS164 DXS206 DXS230 DXS239 DXS268 DXS269 DXS270 DXS272 muscular dystrophy, Duchenne and Becker types ClinVar:DMD Ensembl:ENSG00000198947 Genatlas:DMD HGNC:2928 OMIM:300377 Reactome:P11532 SwissProt:P11532 DMD dystrophin 4q22.1 ClinVar:DMP1 Ensembl:ENSG00000152592 Genatlas:DMP1 HGNC:2932 OMIM:600980 Reactome:Q13316 SwissProt:Q13316 DMP1 dentin matrix acidic phosphoprotein 1 19q13.32 DM protein kinase DM1PK DMK MDPK MT-PK Myotonin-protein kinase dystrophia myotonica 1 myotonic dystrophy associated protein kinase myotonin protein kinase A thymopoietin homolog ClinVar:DMPK Ensembl:ENSG00000104936 Genatlas:DMPK HGNC:2933 IUPHAR:1505 OMIM:605377 Reactome:Q09013 SwissProt:Q09013 DMPK DM1 protein kinase 7p15.3 CILD7 DNAHBL DNAHC11 DNHBL DPL11 Dnahc11 dynein, ciliary, heavy chain 11 dynein, heavy chain beta-like ClinVar:DNAH11 Ensembl:ENSG00000105877 Genatlas:DNAH11 HGNC:2942 OMIM:603339 SwissProt:Q96DT5 DNAH11 dynein axonemal heavy chain 11 5p15.2 CILD3 Dnahc5 HL1 KTGNR PCD dynein heavy chain 5 ClinVar:DNAH5 Ensembl:ENSG00000039139 Genatlas:DNAH5 HGNC:2950 OMIM:603335 SwissProt:Q8TE73 DNAH5 dynein axonemal heavy chain 5 9p13.3 CILD1 DIC1 PCD oda6 ClinVar:DNAI1 Ensembl:ENSG00000122735 Genatlas:DNAI1 HGNC:2954 OMIM:604366 SwissProt:Q9UI46 DNAI1 dynein axonemal intermediate chain 1 19p13.2 CMT2M CMTDI1 CMTDIB DI-CMTB DYN2 DYNII cytoskeletal protein dynamin II ClinVar:DNM2 Ensembl:ENSG00000079805 Genatlas:DNM2 HGNC:2974 OMIM:602378 Reactome:P50570 SwissProt:P50570 DNM2 dynamin 2 20q11.21 ClinVar:DNMT3B Ensembl:ENSG00000088305 Genatlas:DNMT3B HGNC:2979 OMIM:602900 Reactome:Q9UBC3 SwissProt:Q9UBC3 DNMT3B DNA methyltransferase 3 beta 4p16.3 Dok-7 FLJ33718 FLJ39137 ClinVar:DOK7 Ensembl:ENSG00000175920 Genatlas:DOK7 HGNC:26594 OMIM:610285 Reactome:Q18PE1 SwissProt:Q18PE1 DOK7 docking protein 7 11q23.3 ALG7 CDG-Ij D11S366 DGPT GPT GlcNAc-1-P transferase 1 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ClinVar:DPAGT1 Ensembl:ENSG00000172269 Genatlas:DPAGT1 HGNC:2995 OMIM:191350 Reactome:Q9H3H5 SwissProt:Q9H3H5 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 20q13.13 CDGIE DPM synthase complex, catalytic subunit MPDS ClinVar:DPM1 Ensembl:ENSG00000000419 Genatlas:DPM1 HGNC:3005 OMIM:603503 Reactome:O60762 SwissProt:O60762 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic 1p21.3 DHPDHase DPD Dihydrothymine dehydrogenase Dihydrouracil dehydrogenase ClinVar:DPYD Ensembl:ENSG00000188641 Genatlas:DPYD HGNC:3012 IUPHAR:3102 OMIM:612779 Reactome:Q12882 SwissProt:Q12882 DPYD dihydropyrimidine dehydrogenase 8q22.3 DHPase ClinVar:DPYS Ensembl:ENSG00000147647 Genatlas:DPYS HGNC:3013 OMIM:613326 Reactome:Q14117 SwissProt:Q14117 DPYS dihydropyrimidinase 11q23.2 D2R dopamine D2 receptor ClinVar:DRD2 Ensembl:ENSG00000149295 Genatlas:DRD2 HGNC:3023 IUPHAR:215 OMIM:126450 Reactome:P14416 SwissProt:P14416 DRD2 dopamine receptor D2 18q12.1 CDHF2 ClinVar:DSC2 Ensembl:ENSG00000134755 Genatlas:DSC2 HGNC:3036 OMIM:125645 Reactome:Q02487 SwissProt:Q02487 DSC2 desmocollin 2 18q12.1 CDHF4 ClinVar:DSG1 Ensembl:ENSG00000134760 Genatlas:DSG1 HGNC:3048 OMIM:125670 Reactome:Q02413 SwissProt:Q02413 DSG1 desmoglein 1 18q12.1 CDHF5 ClinVar:DSG2 Ensembl:ENSG00000046604 Genatlas:DSG2 HGNC:3049 OMIM:125671 Reactome:Q14126 SwissProt:Q14126 DSG2 desmoglein 2 6p24.3 DPI DPII KPPS2 PPKS2 ClinVar:DSP Ensembl:ENSG00000096696 Genatlas:DSP HGNC:3052 OMIM:125647 Reactome:P15924 SwissProt:P15924 DSP desmoplakin 4q22.1 DMP3 ClinVar:DSPP Ensembl:ENSG00000152591 Genatlas:DSPP HGNC:3054 OMIM:125485 Reactome:Q9NZW4 SwissProt:Q9NZW4 DSPP dentin sialophosphoprotein 18q12.1 D18S892E DRP3 DTN DTN-1 DTN-2 DTN-3 dystrophin-related protein 3 ClinVar:DTNA Ensembl:ENSG00000134769 Genatlas:DTNA HGNC:3057 OMIM:601239 Reactome:Q9Y4J8 SwissProt:Q9Y4J8 DTNA dystrobrevin alpha 6p22.3 BLOC1S8 DBND Dysbindin HPS7 My031 biogenesis of lysosomal organelles complex-1, subunit 8 dysbindin-1 ClinVar:DTNBP1 Ensembl:ENSG00000047579 Genatlas:DTNBP1 HGNC:17328 OMIM:607145 Reactome:Q96EV8 SwissProt:Q96EV8 DTNBP1 dystrobrevin binding protein 1 15q21.1 LNOX2 NADH/NADPH thyroid oxidase p138-tox NADPH oxidase/peroxidase DUOX2 NADPH thyroid oxidase 2 P138(TOX) P138-TOX THOX2 dual oxidase-like domains 2 flavoprotein NADPH oxidase nicotinamide adenine dinucleotide phosphate oxidase ClinVar:DUOX2 Ensembl:ENSG00000140279 Genatlas:DUOX2 HGNC:13273 IUPHAR:2999 OMIM:606759 Reactome:Q9NRD8 SwissProt:Q9NRD8 DUOX2 dual oxidase 2 4q35.2 Ensembl:ENSG00000280757 HGNC:3082 OMIM: SwissProt: DUX4L1 double homeobox 4 like 1 (pseudogene) 18q21.1 DMC FLJ20071 SMC ClinVar:DYM Ensembl:ENSG00000141627 Genatlas:DYM HGNC:21317 OMIM:607461 SwissProt:Q7RTS9 DYM dymeclin 2p13.2 FER1L1 fer-1-like family member 1 ClinVar:DYSF Ensembl:ENSG00000135636 Genatlas:DYSF HGNC:3097 OMIM:603009 Reactome:O75923 SwissProt:O75923 DYSF dysferlin Xp11.23 3-beta-hydroxysteroid-delta-8,delta-7-isomerase CHO2 CPX CPXD Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome) sterol 8-isomerase ClinVar:EBP Ensembl:ENSG00000147155 Genatlas:EBP HGNC:3133 OMIM:300205 Reactome:Q15125 SwissProt:Q15125 EBP EBP cholestenol delta-isomerase 1p36.12 ClinVar:ECE1 Ensembl:ENSG00000117298 Genatlas:ECE1 HGNC:3146 IUPHAR:1615 OMIM:600423 Reactome:P42892 SwissProt:P42892 ECE1 endothelin converting enzyme 1 1q21.2 ClinVar:ECM1 Ensembl:ENSG00000143369 Genatlas:ECM1 HGNC:3153 OMIM:602201 Reactome:Q16610 SwissProt:Q16610 ECM1 extracellular matrix protein 1 Xq13.1 ED1-A1 ED1-A2 EDA-A1 EDA-A2 EDA1 HED XHED XLHED ClinVar:EDA Ensembl:ENSG00000158813 Genatlas:EDA HGNC:3157 OMIM:300451 Reactome:Q92838 SwissProt:Q92838 EDA ectodysplasin A 2q13 ED1R ED5 EDA1R EDA3 Edar Tumor necrosis factor receptor superfamily member EDAR ectodysplasin A1 receptor ClinVar:EDAR Ensembl:ENSG00000135960 Genatlas:EDAR HGNC:2895 IUPHAR:2325 OMIM:604095 Reactome:Q9UNE0 SwissProt:Q9UNE0 EDAR ectodysplasin A receptor 1q42.3-q43 CR Ectodysplasin-A receptor-associated adapter protein crinkled ClinVar:EDARADD Ensembl:ENSG00000186197 Genatlas:EDARADD HGNC:14341 OMIM:606603 Reactome:Q8WWZ3 SwissProt:Q8WWZ3 EDARADD EDAR associated via death domain 20q13.32 ET3 ClinVar:EDN3 Ensembl:ENSG00000124205 Genatlas:EDN3 HGNC:3178 OMIM:131242 Reactome:P14138 SwissProt:P14138 EDN3 endothelin 3 13q22.3 ETB ClinVar:EDNRB Ensembl:ENSG00000136160 Genatlas:EDNRB HGNC:3180 IUPHAR:220 OMIM:131244 Reactome:P24530 SwissProt:P24530 EDNRB endothelin receptor type B 2p16.1 FBLN3 MTLV S1-5 fibulin 3 ClinVar:EFEMP1 Ensembl:ENSG00000115380 Genatlas:EFEMP1 HGNC:3218 OMIM:601548 Reactome:Q12805 SwissProt:Q12805 EFEMP1 EGF containing fibulin extracellular matrix protein 1 11q13.1 FBLN4 UPH1 fibulin 4 ClinVar:EFEMP2 Ensembl:ENSG00000172638 Genatlas:EFEMP2 HGNC:3219 OMIM:604633 Reactome:O95967 SwissProt:O95967 EFEMP2 EGF containing fibulin extracellular matrix protein 2 6p12.2 FLJ10466 POC9 RIB72 myoclonin-1 ClinVar:EFHC1 Ensembl:ENSG00000096093 Genatlas:EFHC1 HGNC:16406 OMIM:608815 Reactome:Q5JVL4 SwissProt:Q5JVL4 EFHC1 EF-hand domain containing 1 Xq13.1 EPH-related receptor tyrosine kinase ligand 2 Elk-L LERK2 ClinVar:EFNB1 Ensembl:ENSG00000090776 Genatlas:EFNB1 HGNC:3226 OMIM:300035 Reactome:P98172 SwissProt:P98172 EFNB1 ephrin B1 7p11.2 ERBB1 ERRP erb-b2 receptor tyrosine kinase 1 erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian) ClinVar:EGFR Ensembl:ENSG00000146648 Genatlas:EGFR HGNC:3236 IUPHAR:1797 OMIM:131550 Reactome:P00533 SwissProt:P00533 EGFR epidermal growth factor receptor 10q21.3 Krox-20 homolog, Drosophila ClinVar:EGR2 Ensembl:ENSG00000122877 Genatlas:EGR2 HGNC:3239 OMIM:129010 Reactome:P11161 SwissProt:P11161 EGR2 early growth response 2 2p11.2 PEK PERK PKR-like ER kinase PRKR-like endoplasmic reticulum kinase pancreatic eIF-2alpha kinase ClinVar:EIF2AK3 Ensembl:ENSG00000172071 Genatlas:EIF2AK3 HGNC:3255 IUPHAR:2017 OMIM:604032 Reactome:Q9NZJ5 SwissProt:Q9NZJ5 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 12q24.31 EIF-2B EIF-2Balpha EIF2BA EIF2Balpha ClinVar:EIF2B1 Ensembl:ENSG00000111361 Genatlas:EIF2B1 HGNC:3257 OMIM:606686 Reactome:Q14232 SwissProt:Q14232 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha 14q24.3 EIF-2Bbeta EIF2B EIF2Bbeta ClinVar:EIF2B2 Ensembl:ENSG00000119718 Genatlas:EIF2B2 HGNC:3258 OMIM:606454 Reactome:P49770 SwissProt:P49770 EIF2B2 eukaryotic translation initiation factor 2B subunit beta 1p34.1 EIF-2B EIF2Bgamma ClinVar:EIF2B3 Ensembl:ENSG00000070785 Genatlas:EIF2B3 HGNC:3259 OMIM:606273 Reactome:Q9NR50 SwissProt:Q9NR50 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma 2p23.3 DKFZP586J0119 EIF-2B EIF2B EIF2Bdelta ClinVar:EIF2B4 Ensembl:ENSG00000115211 Genatlas:EIF2B4 HGNC:3260 OMIM:606687 Reactome:Q9UI10 SwissProt:Q9UI10 EIF2B4 eukaryotic translation initiation factor 2B subunit delta 3q27.1 EIF-2B EIF2Bepsilon ClinVar:EIF2B5 Ensembl:ENSG00000145191 Genatlas:EIF2B5 HGNC:3261 OMIM:603945 Reactome:Q13144 SwissProt:Q13144 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon 1p13.2 AMPD isoform M MAD MADA myoadenylate deaminase skeletal muscle AMPD ClinVar:AMPD1 Ensembl:ENSG00000116748 Genatlas:AMPD1 HGNC:468 OMIM:102770 Reactome:P23109 SwissProt:P23109 AMPD1 adenosine monophosphate deaminase 1 11p15.4 erythrocyte-specific AMP deaminase ClinVar:AMPD3 Ensembl:ENSG00000133805 Genatlas:AMPD3 HGNC:470 OMIM:102772 Reactome:Q01432 SwissProt:Q01432 AMPD3 adenosine monophosphate deaminase 3 3p21.31 GCST NKH glycine cleavage system protein T nonketotic hyperglycinemia ClinVar:AMT Ensembl:ENSG00000145020 Genatlas:AMT HGNC:473 OMIM:238310 Reactome:P48728 SwissProt:P48728 AMT aminomethyltransferase 8p11.21 SPH1 ClinVar:ANK1 Ensembl:ENSG00000029534 Genatlas:ANK1 HGNC:492 OMIM:612641 Reactome:P16157 SwissProt:P16157 ANK1 ankyrin 1 4q25-q26 CFAP87 FAP87 ClinVar:ANK2 Ensembl:ENSG00000145362 Genatlas:ANK2 HGNC:493 OMIM:106410 Reactome:Q01484 SwissProt:Q01484 ANK2 ankyrin 2 5p15.2 ANK CPPDD HANK Mineralization regulator ANKH SLC62A1 solute carrier family 62, member 1 ClinVar:ANKH Ensembl:ENSG00000154122 Genatlas:ANKH HGNC:15492 IUPHAR:3046 OMIM:605145 Reactome:Q9HCJ1 SwissProt:Q9HCJ1 ANKH ANKH inorganic pyrophosphate transport regulator 4q21.21 CMG-2 CMG2 FLJ31074 capillary morphogenesis protein 2 ClinVar:ANTXR2 Ensembl:ENSG00000163297 Genatlas:ANTXR2 HGNC:21732 OMIM:608041 Reactome:P58335 SwissProt:P58335 ANTXR2 ANTXR cell adhesion molecule 2 5q14.1 ADTB3A HPS2 beta-3A ClinVar:AP3B1 Ensembl:ENSG00000132842 Genatlas:AP3B1 HGNC:566 OMIM:603401 Reactome:O00203 SwissProt:O00203 AP3B1 adaptor related protein complex 3 subunit beta 1 11q23.3 ClinVar:APOA1 Ensembl:ENSG00000118137 Genatlas:APOA1 HGNC:600 OMIM:107680 Reactome:P02647 SwissProt:P02647 APOA1 apolipoprotein A1 11q23.3 APOA-V RAP3 ClinVar:APOA5 Ensembl:ENSG00000110243 Genatlas:APOA5 HGNC:17288 OMIM:606368 Reactome:Q6Q788 SwissProt:Q6Q788 APOA5 apolipoprotein A5 2p24.1 ApoB-100 ClinVar:APOB Ensembl:ENSG00000084674 Genatlas:APOB HGNC:603 OMIM:107730 Reactome:P04114 SwissProt:P04114 APOB apolipoprotein B 19q13.32 ClinVar:APOC2 Ensembl:ENSG00000234906 Genatlas:APOC2 HGNC:609 OMIM:608083 Reactome:P02655 SwissProt:P02655 APOC2 apolipoprotein C2 19q13.32 ClinVar:APOE Ensembl:ENSG00000130203 Genatlas:APOE HGNC:613 OMIM:107741 Reactome:P02649 SwissProt:P02649 APOE apolipoprotein E 21q21.3 alpha-sAPP peptidase nexin-II ClinVar:APP Ensembl:ENSG00000142192 Genatlas:APP HGNC:620 OMIM:104760 Reactome:P05067 SwissProt:P05067 APP amyloid beta precursor protein Hemifacial atrophy PHA Parry-Romberg syndrome Progressive facial hemiatrophy Romberg syndrome Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. Orphanet ICD-10:G51.8 ICD-11:EB61.Y MONDO:0007710 MedDRA:10073006 OMIM:141300 UMLS:C0015458 Not applicable Adolescent Adult Childhood United States AND has_point_prevalence_average_value : 0.143 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1214 Progressive hemifacial atrophy ORPHA:1214 ICD-10:G51.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:EB61.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007710 E (Exact mapping: the two concepts are equivalent) MedDRA:10073006 E (Exact mapping: the two concepts are equivalent) OMIM:141300 E (Exact mapping: the two concepts are equivalent) UMLS:C0015458 E (Exact mapping: the two concepts are equivalent) 16q24.3 ClinVar:APRT Ensembl:ENSG00000198931 Genatlas:APRT HGNC:626 OMIM:102600 Reactome:P07741 SwissProt:P07741 APRT adenine phosphoribosyltransferase 9p21.1 AOA AOA1 EAOH EOAHA FLJ20157 ClinVar:APTX Ensembl:ENSG00000137074 Genatlas:APTX HGNC:15984 OMIM:606350 Reactome:Q7Z2E3 SwissProt:Q7Z2E3 APTX aprataxin 12q13.12 ClinVar:AQP2 Ensembl:ENSG00000167580 Genatlas:AQP2 HGNC:634 IUPHAR:689 OMIM:107777 Reactome:P41181 SwissProt:P41181 AQP2 aquaporin 2 20q13.13 BIG2 Brefeldin A-inhibited guanine nucleotide-exchange protein 2 ClinVar:ARFGEF2 Ensembl:ENSG00000124198 Genatlas:ARFGEF2 HGNC:15853 OMIM:605371 Reactome:Q9Y6D5 SwissProt:Q9Y6D5 ARFGEF2 ARF guanine nucleotide exchange factor 2 6q23.2 arginase-1 ClinVar:ARG1 Ensembl:ENSG00000118520 Genatlas:ARG1 HGNC:663 IUPHAR:1244 OMIM:608313 Reactome:P05089 SwissProt:P05089 ARG1 arginase 1 13q14.2 ADP-ribosylation factor-like tumor suppressor gene 1 ARLTS1 FLJ33930 ClinVar:ARL11 Ensembl:ENSG00000152213 Genatlas:ARL11 HGNC:24046 OMIM:609351 SwissProt:Q969Q4 ARL11 ARF like GTPase 11 3q11.2 RP55 ClinVar:ARL6 Ensembl:ENSG00000113966 Genatlas:ARL6 HGNC:13210 OMIM:608845 Reactome:Q9H0F7 SwissProt:Q9H0F7 ARL6 ARF like GTPase 6 22q13.33 ASA metachromatic leucodystrophy ClinVar:ARSA Ensembl:ENSG00000100299 Genatlas:ARSA HGNC:713 OMIM:607574 Reactome:P15289 SwissProt:P15289 ARSA arylsulfatase A 5q14.1 ASB ClinVar:ARSB Ensembl:ENSG00000113273 Genatlas:ARSB HGNC:714 OMIM:611542 Reactome:P15848 SwissProt:P15848 ARSB arylsulfatase B Xp22.33 chondrodysplasia punctata 1 ClinVar:ARSE Ensembl:ENSG00000157399 Genatlas:ARSE HGNC:719 OMIM:300180 Reactome:P51690 SwissProt:P51690 ARSL arylsulfatase L 22q11.21 ClinVar:ARVCF Ensembl:ENSG00000099889 Genatlas:ARVCF HGNC:728 OMIM:602269 SwissProt:O00192 ARVCF ARVCF delta catenin family member Xp21.3 CT121 EIEE1 ISSX cancer/testis antigen 121 ClinVar:ARX Ensembl:ENSG00000004848 Genatlas:ARX HGNC:18060 OMIM:300382 SwissProt:Q96QS3 ARX aristaless related homeobox 8p22 AC ACDase FLJ21558 PHP32 acid ceramidase acylsphingosine deacylase ClinVar:ASAH1 Ensembl:ENSG00000104763 Genatlas:ASAH1 HGNC:735 IUPHAR:2491 OMIM:613468 Reactome:Q13510 SwissProt:Q13510 ASAH1 N-acylsphingosine amidohydrolase 1 7q11.21 ASAL ClinVar:ASL Ensembl:ENSG00000126522 Genatlas:ASL HGNC:746 OMIM:608310 Reactome:P04424 SwissProt:P04424 ASL argininosuccinate lyase 17p13.2 ACY2 ASP Canavan disease aminoacylase 2 “cytosolic aspartoacylase” “cytosolic aspartoacylase” ClinVar:ASPA Ensembl:ENSG00000108381 Genatlas:ASPA HGNC:756 OMIM:608034 Reactome:P45381 SwissProt:P45381 ASPA aspartoacylase 1q31.3 ASP Calmbp1 FLJ10517 FLJ10549 ClinVar:ASPM Ensembl:ENSG00000066279 Genatlas:ASPM HGNC:19048 OMIM:605481 Reactome:Q8IZT6 SwissProt:Q8IZT6 ASPM assembly factor for spindle microtubules 9q34.11 CTLN1 ClinVar:ASS1 Ensembl:ENSG00000130707 Genatlas:ASS1 HGNC:758 OMIM:603470 Reactome:P00966 SwissProt:P00966 ASS1 argininosuccinate synthase 1 19p13.3 BNIP-H Cayman ataxia caytaxin ClinVar:ATCAY Ensembl:ENSG00000167654 Genatlas:ATCAY HGNC:779 OMIM:608179 Reactome:Q86WG3 SwissProt:Q86WG3 ATCAY ATCAY kinesin light chain interacting caytaxin 11q22.3 TEL1 TEL1, telomere maintenance 1, homolog (S. cerevisiae) TELO1 ClinVar:ATM Ensembl:ENSG00000149311 Genatlas:ATM HGNC:795 IUPHAR:1934 OMIM:607585 Reactome:Q13315 SwissProt:Q13315 ATM ATM serine/threonine kinase 12p13.31 B37 ClinVar:ATN1 Ensembl:ENSG00000111676 Genatlas:ATN1 HGNC:3033 OMIM:607462 Reactome:P54259 SwissProt:P54259 ATN1 atrophin 1 15q12 ATPVA ATPVC KIAA0566 ClinVar:ATP10A Ensembl:ENSG00000206190 Genatlas:ATP10A HGNC:13542 IUPHAR:862 OMIM:605855 Reactome:O60312 SwissProt:O60312 ATP10A ATPase phospholipid transporting 10A (putative) 1p36.13 CLN12 HSA9947 ClinVar:ATP13A2 Ensembl:ENSG00000159363 Genatlas:ATP13A2 HGNC:30213 IUPHAR:3156 OMIM:610513 Reactome:Q9NQ11 SwissProt:Q9NQ11 ATP13A2 ATPase cation transporting 13A2 1q23.2 FHM2 sodium pump subunit alpha-2 sodium-potassium ATPase catalytic subunit alpha-2 sodium/potassium-transporting ATPase subunit alpha-2 ClinVar:ATP1A2 Ensembl:ENSG00000018625 Genatlas:ATP1A2 HGNC:800 IUPHAR:834 OMIM:182340 Reactome:P50993 SwissProt:P50993 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ADOA+ DOA+ Optic atrophy-deafness-polyneuropathy-myopathy syndrome Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness. Orphanet ICD-10:H47.2 ICD-11:9C40.8 MONDO:0014720 OMIM:125250 OMIM:165199 OMIM:616648 UMLS:C3276549 Autosomal dominant Adolescent Adult Childhood Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1215 Autosomal dominant optic atrophy plus syndrome ORPHA:1215 ICD-10:H47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9C40.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0014720 E (Exact mapping: the two concepts are equivalent) OMIM:125250 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:165199 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616648 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C3276549 E (Exact mapping: the two concepts are equivalent) 19q13.2 sodium pump subunit alpha-3 sodium-potassium ATPase catalytic subunit alpha-3 sodium/potassium-transporting ATPase subunit alpha-3 ClinVar:ATP1A3 Ensembl:ENSG00000105409 Genatlas:ATP1A3 HGNC:801 IUPHAR:835 OMIM:182350 Reactome:P13637 SwissProt:P13637 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 19p13.3 HLE HNE NE PMN Elastase PMN-E leukocyte elastase medullasin neutrophil elastase polymorphonuclear leukocyte elastase ClinVar:ELANE Ensembl:ENSG00000197561 Genatlas:ELANE HGNC:3309 IUPHAR:2358 OMIM:130130 Reactome:P08246 SwissProt:P08246 ELANE elastase, neutrophil expressed 17p12 FLJ10530 HPC2 tRNase Z (long form) ClinVar:ELAC2 Ensembl:ENSG00000006744 Genatlas:ELAC2 HGNC:14198 OMIM:605367 Reactome:Q9BQ52 SwissProt:Q9BQ52 ELAC2 elaC ribonuclease Z 2 7q11.23 SVAS WBS WS Williams-Beuren syndrome supravalvular aortic stenosis tropoelastin ClinVar:ELN Ensembl:ENSG00000049540 Genatlas:ELN HGNC:3327 OMIM:130160 Reactome:P15502 SwissProt:P15502 ELN elastin 6q14.1 CT118 cancer/testis antigen 118 ClinVar:ELOVL4 Ensembl:ENSG00000118402 Genatlas:ELOVL4 HGNC:14415 OMIM:605512 Reactome:Q9GZR5 SwissProt:Q9GZR5 ELOVL4 ELOVL fatty acid elongase 4 Xq28 LEM domain containing 5 LEMD5 STA ClinVar:EMD Ensembl:ENSG00000102119 Genatlas:EMD HGNC:3331 OMIM:300384 Reactome:P50402 SwissProt:P50402 EMD emerin 10q26.11 ClinVar:EMX2 Ensembl:ENSG00000170370 Genatlas:EMX2 HGNC:3341 OMIM:600035 Reactome:Q04743 SwissProt:Q04743 EMX2 empty spiracles homeobox 2 4q13.3 ClinVar:ENAM Ensembl:ENSG00000132464 Genatlas:ENAM HGNC:3344 OMIM:606585 Reactome:Q9NRM1 SwissProt:Q9NRM1 ENAM enamelin 9q34.11 CD105 END HHT1 ClinVar:ENG Ensembl:ENSG00000106991 Genatlas:ENG HGNC:3349 IUPHAR:2895 OMIM:131195 Reactome:P17813 SwissProt:P17813 ENG endoglin 17p13.2 beta-enolase muscle enriched enolase ClinVar:ENO3 Ensembl:ENSG00000108515 Genatlas:ENO3 HGNC:3354 OMIM:131370 Reactome:P13929 SwissProt:P13929 ENO3 enolase 3 6q23.2 PC-1 PCA1 ClinVar:ENPP1 Ensembl:ENSG00000197594 Genatlas:ENPP1 HGNC:3356 OMIM:173335 Reactome:P22413 SwissProt:P22413 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 22q13.2 KAT3B histone acetyltransferase p300 p300 ClinVar:EP300 Ensembl:ENSG00000100393 Genatlas:EP300 HGNC:3373 IUPHAR:2735 OMIM:602700 Reactome:Q09472 SwissProt:Q09472 EP300 EP300 lysine acetyltransferase 1p35.3 4.1R ClinVar:EPB41 Ensembl:ENSG00000159023 Genatlas:EPB41 HGNC:3377 IUPHAR:3151 OMIM:130500 Reactome:P11171 SwissProt:P11171 EPB41 erythrocyte membrane protein band 4.1 1p36.12 Hek5 Tyro5 ClinVar:EPHB2 Ensembl:ENSG00000133216 Genatlas:EPHB2 HGNC:3393 IUPHAR:1831 OMIM:600997 Reactome:P29323 SwissProt:P29323 EPHB2 EPH receptor B2 1q42.12 ClinVar:EPHX1 Ensembl:ENSG00000143819 Genatlas:EPHX1 HGNC:3401 OMIM:132810 Reactome:P07099 SwissProt:P07099 EPHX1 epoxide hydrolase 1 6q24.3 LD LDE ClinVar:EPM2A Ensembl:ENSG00000112425 Genatlas:EPM2A HGNC:3413 OMIM:607566 Reactome:O95278 SwissProt:O95278 EPM2A EPM2A glucan phosphatase, laforin 19p13.2 EPO-R ClinVar:EPOR Ensembl:ENSG00000187266 Genatlas:EPOR HGNC:3416 IUPHAR:1718 OMIM:133171 Reactome:P19235 SwissProt:P19235 EPOR erythropoietin receptor 12p13.33 CAST2 ELKS KIAA1081 MGC12974 ClinVar:ERC1 Ensembl:ENSG00000082805 Genatlas:ERC1 HGNC:17072 OMIM:607127 SwissProt:Q8IUD2 ERC1 ELKS/RAB6-interacting/CAST family member 1 19q13.32 EM9 MAG MGC102762 MGC126218 MGC126219 TFIIH TFIIH basal transcription factor complex helicase XPB subunit excision repair cross-complementing rodent repair deficiency, complementation group 2 protein ClinVar:ERCC2 Ensembl:ENSG00000104884 Genatlas:ERCC2 HGNC:3434 OMIM:126340 Reactome:P18074 SwissProt:P18074 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit 16p13.12 FANCQ RAD1 xeroderma pigmentosum, complementation group F ClinVar:ERCC4 Ensembl:ENSG00000175595 Genatlas:ERCC4 HGNC:3436 OMIM:133520 Reactome:Q92889 SwissProt:Q92889 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit 10q11.23 ARMD5 CSB Cockayne syndrome B protein RAD26 ClinVar:ERCC6 Ensembl:ENSG00000225830 Genatlas:ERCC6 HGNC:3438 OMIM:609413 Reactome:Q03468 SwissProt:Q03468 ERCC6 ERCC excision repair 6, chromatin remodeling factor Autosomal dominant benign distal spinal muscular atrophy Congenital benign spinal muscular atrophy with contractures Congenital nonprogressive spinal muscular atrophy A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated. Orphanet ICD-10:G12.1 ICD-11:8B61.4 MONDO:0010839 MeSH:C563981 OMIM:600175 UMLS:C1838492 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1216 Autosomal dominant congenital benign spinal muscular atrophy ORPHA:1216 ICD-10:G12.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B61.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010839 E (Exact mapping: the two concepts are equivalent) MeSH:C563981 E (Exact mapping: the two concepts are equivalent) OMIM:600175 E (Exact mapping: the two concepts are equivalent) UMLS:C1838492 E (Exact mapping: the two concepts are equivalent) 5q12.1 CSA ClinVar:ERCC8 Ensembl:ENSG00000049167 Genatlas:ERCC8 HGNC:3439 OMIM:609412 Reactome:Q13216 SwissProt:Q13216 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 21q22.2 ETS-related gene TMPRSS2-ERG prostate cancer specific erg-3 p55 transcriptional regulator ERG (transforming protein ERG) v-ets erythroblastosis virus E26 oncogene like ClinVar:ERG Ensembl:ENSG00000157554 Genatlas:ERG HGNC:3446 OMIM:165080 Reactome:P11308 SwissProt:P11308 ERG ETS transcription factor ERG 8p21.1 EFO2 ClinVar:ESCO2 Ensembl:ENSG00000171320 Genatlas:ESCO2 HGNC:27230 OMIM:609353 Reactome:Q56NI9 SwissProt:Q56NI9 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 6q25.1-q25.2 E2 receptor alpha ER ER-alpha Era NR3A1 estradiol receptor estrogen receptor alpha nuclear receptor subfamily 3 group A member 1 oestrogen receptor alpha ClinVar:ESR1 Ensembl:ENSG00000091831 Genatlas:ESR1 HGNC:3467 IUPHAR:620 OMIM:133430 Reactome:P03372 SwissProt:P03372 ESR1 estrogen receptor 1 15q24.2-q24.3 EMA GA2 MADD glutaric aciduria II multiple acyl-CoA dehydrogenase deficiency ClinVar:ETFA Ensembl:ENSG00000140374 Genatlas:ETFA HGNC:3481 OMIM:608053 Reactome:P13804 SwissProt:P13804 ETFA electron transfer flavoprotein subunit alpha 19q13.41 ClinVar:ETFB Ensembl:ENSG00000105379 Genatlas:ETFB HGNC:3482 OMIM:130410 Reactome:P38117 SwissProt:P38117 ETFB electron transfer flavoprotein subunit beta 4q32.1 ETFQO ClinVar:ETFDH Ensembl:ENSG00000171503 Genatlas:ETFDH HGNC:3483 OMIM:231675 Reactome:Q16134 SwissProt:Q16134 ETFDH electron transfer flavoprotein dehydrogenase 19q13.31 HSCO YF13H12 ClinVar:ETHE1 Ensembl:ENSG00000105755 Genatlas:ETHE1 HGNC:23287 OMIM:608451 Reactome:O95571 SwissProt:O95571 ETHE1 ETHE1 persulfide dioxygenase 7p21.2 ER81 ClinVar:ETV1 Ensembl:ENSG00000006468 Genatlas:ETV1 HGNC:3490 OMIM:600541 Reactome:P50549 SwissProt:P50549 ETV1 ETS variant transcription factor 1 4p16.2 DWF-1 EVC1 ClinVar:EVC Ensembl:ENSG00000072840 Genatlas:EVC HGNC:3497 OMIM:604831 Reactome:P57679 SwissProt:P57679 EVC EvC ciliary complex subunit 1 4p16.2 LBN limbin ClinVar:EVC2 Ensembl:ENSG00000173040 Genatlas:EVC2 HGNC:19747 OMIM:607261 Reactome:Q86UK5 SwissProt:Q86UK5 EVC2 EvC ciliary complex subunit 2 22q12.2 EWS ClinVar:EWSR1 Ensembl:ENSG00000182944 Genatlas:EWSR1 HGNC:3508 OMIM:133450 Reactome:Q01844 SwissProt:Q01844 EWSR1 EWS RNA binding protein 1 8q24.11 Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase ttv ClinVar:EXT1 Ensembl:ENSG00000182197 Genatlas:EXT1 HGNC:3512 OMIM:608177 Reactome:Q16394 SwissProt:Q16394 EXT1 exostosin glycosyltransferase 1 11p11.2 Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase SOTV ClinVar:EXT2 Ensembl:ENSG00000151348 Genatlas:EXT2 HGNC:3513 OMIM:608210 Reactome:Q93063 SwissProt:Q93063 EXT2 exostosin glycosyltransferase 2 8q13.3 ClinVar:EYA1 Ensembl:ENSG00000104313 Genatlas:EYA1 HGNC:3519 OMIM:601653 Reactome:Q99502 SwissProt:Q99502 EYA1 EYA transcriptional coactivator and phosphatase 1 6q23.2 ClinVar:EYA4 Ensembl:ENSG00000112319 Genatlas:EYA4 HGNC:3522 OMIM:603550 Reactome:O95677 SwissProt:O95677 EYA4 EYA transcriptional coactivator and phosphatase 4 13q34 ClinVar:F10 Ensembl:ENSG00000126218 Genatlas:F10 HGNC:3528 IUPHAR:2359 OMIM:613872 Reactome:P00742 SwissProt:P00742 F10 coagulation factor X 4q35.2 FXI plasma thromboplastin antecedent ClinVar:F11 Ensembl:ENSG00000088926 Genatlas:F11 HGNC:3529 IUPHAR:2360 OMIM:264900 Reactome:P03951 SwissProt:P03951 F11 coagulation factor XI 5q35.3 Plasma coagulation Factor XIIa ClinVar:F12 Ensembl:ENSG00000131187 Genatlas:F12 HGNC:3530 IUPHAR:2361 OMIM:610619 Reactome:P00748 SwissProt:P00748 F12 coagulation factor XII 6p25.1 ClinVar:F13A1 Ensembl:ENSG00000124491 Genatlas:F13A1 HGNC:3531 OMIM:134570 Reactome:P00488 SwissProt:P00488 F13A1 coagulation factor XIII A chain 1q31.3 FXIIIB ClinVar:F13B Ensembl:ENSG00000143278 Genatlas:F13B HGNC:3534 OMIM:134580 Reactome:P05160 SwissProt:P05160 F13B coagulation factor XIII B chain 11p11.2 prepro-coagulation factor II ClinVar:F2 Ensembl:ENSG00000180210 Genatlas:F2 HGNC:3535 IUPHAR:2362 OMIM:176930 Reactome:P00734 SwissProt:P00734 F2 coagulation factor II, thrombin 1q24.2 ClinVar:F5 Ensembl:ENSG00000198734 Genatlas:F5 HGNC:3542 IUPHAR:2606 OMIM:612309 Reactome:P12259 SwissProt:P12259 F5 coagulation factor V 13q34 FVII coagulation protein eptacog alfa factor VII ClinVar:F7 Ensembl:ENSG00000057593 Genatlas:F7 HGNC:3544 IUPHAR:2363 OMIM:613878 Reactome:P08709 SwissProt:P08709 F7 coagulation factor VII Xq28 DXS1253E FVIII Factor VIIIF8B HEMA hemophilia A ClinVar:F8 Ensembl:ENSG00000185010 Genatlas:F8 HGNC:3546 IUPHAR:2607 OMIM:300841 Reactome:P00451 SwissProt:P00451 F8 coagulation factor VIII Xq27.1 Christmas disease FIX Factor IX hemophilia B plasma thromboplastic component ClinVar:F9 Ensembl:ENSG00000101981 Genatlas:F9 HGNC:3551 IUPHAR:2364 OMIM:300746 Reactome:P00740 SwissProt:P00740 F9 coagulation factor IX 15q25.1 fumarylacetoacetase ClinVar:FAH Ensembl:ENSG00000103876 Genatlas:FAH HGNC:3579 OMIM:613871 Reactome:P16930 SwissProt:P16930 FAH fumarylacetoacetate hydrolase 7p15.3 DRCTNNB1A HCC HYCC1 down regulated by Ctnnb1, a hyccin ClinVar:FAM126A Ensembl:ENSG00000122591 Genatlas:FAM126A HGNC:24587 OMIM:610531 SwissProt:Q9BYI3 HYCC1 hyccin PI4KA lipid kinase complex subunit 1 16q24.3 FA-H FAA FAH ClinVar:FANCA Ensembl:ENSG00000187741 Genatlas:FANCA HGNC:3582 OMIM:607139 Reactome:O15360 SwissProt:O15360 FANCA FA complementation group A Hamano-Tsukamoto syndrome Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. Orphanet ICD-10:G12.2 MONDO:0015250 MeSH:C535625 UMLS:C2930956 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1217 Historical entity Spinal atrophy-ophthalmoplegia-pyramidal syndrome ORPHA:1217 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015250 E (Exact mapping: the two concepts are equivalent) MeSH:C535625 E (Exact mapping: the two concepts are equivalent) UMLS:C2930956 E (Exact mapping: the two concepts are equivalent) Xp22.2 FAAP95 FAB FLJ34064 ClinVar:FANCB Ensembl:ENSG00000181544 Genatlas:FANCB HGNC:3583 OMIM:300515 Reactome:Q8NB91 SwissProt:Q8NB91 FANCB FA complementation group B 9q22.32 FA3 FAC ClinVar:FANCC Ensembl:ENSG00000158169 Genatlas:FANCC HGNC:3584 OMIM:613899 Reactome:Q00597 SwissProt:Q00597 FANCC FA complementation group C 3p25.3 FA-D2 FAD ClinVar:FANCD2 Ensembl:ENSG00000144554 Genatlas:FANCD2 HGNC:3585 OMIM:613984 Reactome:Q9BXW9 SwissProt:Q9BXW9 FANCD2 FA complementation group D2 6p21.31 FAE ClinVar:FANCE Ensembl:ENSG00000112039 Genatlas:FANCE HGNC:3586 OMIM:613976 Reactome:Q9HB96 SwissProt:Q9HB96 FANCE FA complementation group E 11p14.3 FAF ClinVar:FANCF Ensembl:ENSG00000183161 Genatlas:FANCF HGNC:3587 OMIM:613897 Reactome:Q9NPI8 SwissProt:Q9NPI8 FANCF FA complementation group F 9p13.3 DNA repair protein XRCC9 FAG X-ray repair complementing defective repair in Chinese hamster cells 9 X-ray repair, complementing defective, in Chinese hamster, 9 ClinVar:FANCG Ensembl:ENSG00000221829 Genatlas:FANCG HGNC:3588 OMIM:602956 Reactome:O15287 SwissProt:O15287 FANCG FA complementation group G 2p16.1 FAAP43 FLJ10335 Pog ClinVar:FANCL Ensembl:ENSG00000115392 Genatlas:FANCL HGNC:20748 OMIM:608111 Reactome:Q9NW38 SwissProt:Q9NW38 FANCL FA complementation group L 14q21.2 FAAP250 ClinVar:FANCM Ensembl:ENSG00000187790 Genatlas:FANCM HGNC:23168 OMIM:609644 Reactome:Q8IYD8 SwissProt:Q8IYD8 FANCM FA complementation group M 10q23.31 APO-1 CD95 TNF receptor superfamily member 6 ClinVar:FAS Ensembl:ENSG00000026103 Genatlas:FAS HGNC:11920 IUPHAR:1875 OMIM:134637 Reactome:P25445 SwissProt:P25445 FAS Fas cell surface death receptor 1q24.3 CD178 FasL ClinVar:FASLG Ensembl:ENSG00000117560 Genatlas:FASLG HGNC:11936 OMIM:134638 Reactome:P48023 SwissProt:P48023 FASLG Fas ligand 14q32.12 ARMD3 DANCE EVEC UP50 developmental arteries and neural crest EGF-like embryonic vascular EGF-like repeat-containing protein ClinVar:FBLN5 Ensembl:ENSG00000140092 Genatlas:FBLN5 HGNC:3602 OMIM:604580 Reactome:Q9UBX5 SwissProt:Q9UBX5 FBLN5 fibulin 5 15q21.1 MASS Marfan syndrome OCTD SGS asprosin ClinVar:FBN1 Ensembl:ENSG00000166147 Genatlas:FBN1 HGNC:3603 OMIM:134797 Reactome:P35555 SwissProt:P35555 FBN1 fibrillin 1 5q23.3 DA9 fibrillin 5 ClinVar:FBN2 Ensembl:ENSG00000138829 Genatlas:FBN2 HGNC:3604 OMIM:612570 Reactome:P35556 SwissProt:P35556 FBN2 fibrillin 2 9q22.32 ClinVar:FBP1 Ensembl:ENSG00000165140 Genatlas:FBP1 HGNC:3606 OMIM:611570 Reactome:P09467 SwissProt:P09467 FBP1 fructose-bisphosphatase 1 9q31.2 LGMD2M Ribitol-5-phosphate transferase ClinVar:FKTN Ensembl:ENSG00000106692 Genatlas:FKTN HGNC:3622 OMIM:607440 SwissProt:O75072 FKTN fukutin 18q21.31 protoporphyria ClinVar:FECH Ensembl:ENSG00000066926 Genatlas:FECH HGNC:3647 OMIM:612386 Reactome:P22830 SwissProt:P22830 FECH ferrochelatase 4q31.3 ClinVar:FGA Ensembl:ENSG00000171560 Genatlas:FGA HGNC:3661 OMIM:134820 Reactome:P02671 SwissProt:P02671 FGA fibrinogen alpha chain 4q31.3 ClinVar:FGB Ensembl:ENSG00000171564 Genatlas:FGB HGNC:3662 OMIM:134830 Reactome:P02675 SwissProt:P02675 FGB fibrinogen beta chain Xp11.22 ZFYVE3 ClinVar:FGD1 Ensembl:ENSG00000102302 Genatlas:FGD1 HGNC:3663 OMIM:300546 Reactome:P98174 SwissProt:P98174 FGD1 FYVE, RhoGEF and PH domain containing 1 5p12 ClinVar:FGF10 Ensembl:ENSG00000070193 Genatlas:FGF10 HGNC:3666 OMIM:602115 Reactome:O15520 SwissProt:O15520 FGF10 fibroblast growth factor 10 13q33.1 FHF4 SCA27 ClinVar:FGF14 Ensembl:ENSG00000102466 Genatlas:FGF14 HGNC:3671 OMIM:601515 Reactome:Q92915 SwissProt:Q92915 FGF14 fibroblast growth factor 14 12p13.32 ClinVar:FGF23 Ensembl:ENSG00000118972 Genatlas:FGF23 HGNC:3680 OMIM:605380 Reactome:Q9GZV9 SwissProt:Q9GZV9 FGF23 fibroblast growth factor 23 8p11.23 BFGFR CD331 CEK FLG H2 H3 H4 H5 N-SAM Pfeiffer syndrome ClinVar:FGFR1 Ensembl:ENSG00000077782 Genatlas:FGFR1 HGNC:3688 IUPHAR:1808 OMIM:136350 Reactome:P11362 SwissProt:P11362 FGFR1 fibroblast growth factor receptor 1 4p16.3 CD333 CEK2 JTK4 ClinVar:FGFR3 Ensembl:ENSG00000068078 Genatlas:FGFR3 HGNC:3690 IUPHAR:1810 OMIM:134934 Reactome:P22607 SwissProt:P22607 FGFR3 fibroblast growth factor receptor 3 4q32.1 ClinVar:FGG Ensembl:ENSG00000171557 Genatlas:FGG HGNC:3694 OMIM:134850 Reactome:P02679 SwissProt:P02679 FGG fibrinogen gamma chain 1q43 fumarase ClinVar:FH Ensembl:ENSG00000091483 Genatlas:FH HGNC:3700 OMIM:136850 Reactome:P07954 SwissProt:P07954 FH fumarate hydratase 3p14.2 AP3Aase FRA3B bis(5'-adenosyl)-triphosphatase ClinVar:FHIT Ensembl:ENSG00000189283 Genatlas:FHIT HGNC:3701 OMIM:601153 Reactome:P49789 SwissProt:P49789 FHIT fragile histidine triad diadenosine triphosphatase 4q12 DKFZp586K0717 FIP1 hFip1 ClinVar:FIP1L1 Ensembl:ENSG00000145216 Genatlas:FIP1L1 HGNC:19124 OMIM:607686 Reactome:Q6UN15 SwissProt:Q6UN15 FIP1L1 factor interacting with PAPOLA and CPSF1 19q13.32 FKTR LGMD2I MDC1C Ribitol 5-phosphate transferase ClinVar:FKRP Ensembl:ENSG00000181027 Genatlas:FKRP HGNC:17997 OMIM:606596 SwissProt:Q9H9S5 FKRP fukutin related protein 17p11.2 BHD DENND8B MGC17998 MGC23445 ClinVar:FLCN Ensembl:ENSG00000154803 Genatlas:FLCN HGNC:27310 OMIM:607273 SwissProt:Q8NFG4 FLCN folliculin 1q21.3 FLG-1 FLG1 ClinVar:FLG Ensembl:ENSG00000143631 Genatlas:FLG HGNC:3748 OMIM:135940 Reactome:P20930 SwissProt:P20930 FLG filaggrin 11q24.3 EWSR2 FLI-1 SIC-1 ClinVar:FLI1 Ensembl:ENSG00000151702 Genatlas:FLI1 HGNC:3749 OMIM:193067 Reactome:Q01543 SwissProt:Q01543 FLI1 Fli-1 proto-oncogene, ETS transcription factor 17p11.2 FLI FLIL Fli1 MGC39265 ClinVar:FLII Ensembl:ENSG00000177731 Genatlas:FLII HGNC:3750 OMIM:600362 SwissProt:Q13045 FLII FLII actin remodeling protein Xq28 ABP-280 actin binding protein 280 alpha filamin ClinVar:FLNA Ensembl:ENSG00000196924 Genatlas:FLNA HGNC:3754 OMIM:300017 Reactome:P21333 SwissProt:P21333 FLNA filamin A 3p14.3 ABP-278 FH1 TABP TAP actin binding protein 278 beta filamin ClinVar:FLNB Ensembl:ENSG00000136068 Genatlas:FLNB HGNC:3755 OMIM:603381 Reactome:O75369 SwissProt:O75369 FLNB filamin B 7q32.1 ABP-280 ABPL actin binding protein 280 gamma filamin ClinVar:FLNC Ensembl:ENSG00000128591 Genatlas:FLNC HGNC:3756 OMIM:102565 Reactome:Q14315 SwissProt:Q14315 FLNC filamin C 5q35.3 Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4 PCL VEGF receptor-3 VEGFR-3 VEGFR3 primary congenital lymphedema vascular endothelial growth factor receptor 3 ClinVar:FLT4 Ensembl:ENSG00000037280 Genatlas:FLT4 HGNC:3767 IUPHAR:1814 OMIM:136352 Reactome:P35916 SwissProt:P35916 FLT4 fms related receptor tyrosine kinase 4 1q24.3 Dimethylaniline monooxygenase [N-oxide-forming] 3 FMOII ClinVar:FMO3 Ensembl:ENSG00000007933 Genatlas:FMO3 HGNC:3771 OMIM:136132 Reactome:P31513 SwissProt:P31513 FMO3 flavin containing dimethylaniline monoxygenase 3 Xq27.3 FMRP FRAXA MGC87458 ClinVar:FMR1 Ensembl:ENSG00000102081 Genatlas:FMR1 HGNC:3775 OMIM:309550 SwissProt:Q06787 FMR1 fragile X messenger ribonucleoprotein 1 6p25.3 ARA FREAC3 IGDA IHG1 ClinVar:FOXC1 Ensembl:ENSG00000054598 Genatlas:FOXC1 HGNC:3800 OMIM:601090 Reactome:Q12948 SwissProt:Q12948 FOXC1 forkhead box C1 16q24.1 MFH-1 mesenchyme forkhead 1 ClinVar:FOXC2 Ensembl:ENSG00000176692 Genatlas:FOXC2 HGNC:3801 OMIM:602402 Reactome:Q99958 SwissProt:Q99958 FOXC2 forkhead box C2 9q22.33 HFKH4 TTF-2 thyroid transcription factor 2 ClinVar:FOXE1 Ensembl:ENSG00000178919 Genatlas:FOXE1 HGNC:3806 OMIM:602617 SwissProt:O00358 FOXE1 forkhead box E1 Auralcephalosyndactyly Kurczynski-Casperson syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Saethre-Chotzen syndrome MeSH:D000168 MedDRA:10000590 OMIM:109050 UMLS:C1862380 Aurocephalosyndactyly ORPHA:1219 MeSH:D000168 E (Exact mapping: the two concepts are equivalent) MedDRA:10000590 E (Exact mapping: the two concepts are equivalent) OMIM:109050 E (Exact mapping: the two concepts are equivalent) UMLS:C1862380 E (Exact mapping: the two concepts are equivalent) 1p33 FREAC8 ClinVar:FOXE3 Ensembl:ENSG00000186790 Genatlas:FOXE3 HGNC:3808 OMIM:601094 SwissProt:Q13461 FOXE3 forkhead box E3 3q22.3 BPES1 ClinVar:FOXL2 Ensembl:ENSG00000183770 Genatlas:FOXL2 HGNC:1092 OMIM:605597 Reactome:P58012 SwissProt:P58012 FOXL2 forkhead box L2 13q14.11 FKH1 ClinVar:FOXO1 Ensembl:ENSG00000150907 Genatlas:FOXO1 HGNC:3819 OMIM:136533 Reactome:Q12778 SwissProt:Q12778 FOXO1 forkhead box O1 Xp11.23 AIID DIETER JM2 PIDX SCURFIN XPID ClinVar:FOXP3 Ensembl:ENSG00000049768 Genatlas:FOXP3 HGNC:6106 OMIM:300292 Reactome:Q9BZS1 SwissProt:Q9BZS1 FOXP3 forkhead box P3 4q21.21 FLJ14927 FLJ22031 KIAA1500 ClinVar:FRAS1 Ensembl:ENSG00000138759 Genatlas:FRAS1 HGNC:19185 OMIM:607830 SwissProt:Q86XX4 FRAS1 Fraser extracellular matrix complex subunit 1 13q13.3 DKFZp686J0811 ClinVar:FREM2 Ensembl:ENSG00000150893 Genatlas:FREM2 HGNC:25396 OMIM:608945 SwissProt:Q5SZK8 FREM2 FRAS1 related extracellular matrix 2 4q35.2 FRG1A FSG1 ClinVar:FRG1 Ensembl:ENSG00000109536 Genatlas:FRG1 HGNC:3954 OMIM:601278 Reactome:Q14331 SwissProt:Q14331 FRG1 FSHD region gene 1 17q25.3 RFSN RP30 retinal fascin ClinVar:FSCN2 Ensembl:ENSG00000186765 Genatlas:FSCN2 HGNC:3960 OMIM:607643 SwissProt:O14926 FSCN2 fascin actin-bundling protein 2, retinal 11p14.1 follitropin, beta chain ClinVar:FSHB Ensembl:ENSG00000131808 Genatlas:FSHB HGNC:3964 OMIM:136530 Reactome:P01225 SwissProt:P01225 FSHB follicle stimulating hormone subunit beta 2p16.3 FSHRO LGR1 ClinVar:FSHR Ensembl:ENSG00000170820 Genatlas:FSHR HGNC:3969 IUPHAR:253 OMIM:136435 Reactome:P23945 SwissProt:P23945 FSHR follicle stimulating hormone receptor 21q22.3 ClinVar:FTCD Ensembl:ENSG00000160282 Genatlas:FTCD HGNC:3974 OMIM:606806 Reactome:O95954 SwissProt:O95954 FTCD formimidoyltransferase cyclodeaminase 19q13.33 FTL1 L apoferritin MGC71996 NBIA3 ferritin L subunit ferritin L-chain ferritin light polypeptide-like 3 neurodegeneration with brain iron accumulation 3 ClinVar:FTL Ensembl:ENSG00000087086 Genatlas:FTL HGNC:3999 OMIM:134790 Reactome:P02792 SwissProt:P02792 FTL ferritin light chain Xp11.23 CDLIV JM23 SPB1 TRM7 TRMT7 tRNA methyltransferase 7 homolog (S. cerevisiae) ClinVar:FTSJ1 Ensembl:ENSG00000068438 Genatlas:FTSJ1 HGNC:13254 OMIM:300499 Reactome:Q9UET6 SwissProt:Q9UET6 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 1p36.11 a-L-fucosidase 1 tissue fucosidase ClinVar:FUCA1 Ensembl:ENSG00000179163 Genatlas:FUCA1 HGNC:4006 OMIM:612280 Reactome:P04066 SwissProt:P04066 FUCA1 alpha-L-fucosidase 1 9q21.11 CyaY FA FARR X25 ClinVar:FXN Ensembl:ENSG00000165060 Genatlas:FXN HGNC:3951 OMIM:606829 Reactome:Q16595 SwissProt:Q16595 FXN frataxin 11q23.3 MGC12372 ClinVar:FXYD2 Ensembl:ENSG00000137731 Genatlas:FXYD2 HGNC:4026 IUPHAR:2610 OMIM:601814 Reactome:P54710 SwissProt:P54710 FXYD2 FXYD domain containing ion transport regulator 2 11q14.2 CD344 ClinVar:FZD4 Ensembl:ENSG00000174804 Genatlas:FZD4 HGNC:4042 IUPHAR:232 OMIM:604579 Reactome:Q9ULV1 SwissProt:Q9ULV1 FZD4 frizzled class receptor 4 17q21.31 G6PC1 GSD1a glycogen storage disease type I, von Gierke disease ClinVar:G6PC Ensembl:ENSG00000131482 Genatlas:G6PC HGNC:4056 OMIM:613742 Reactome:P35575 SwissProt:P35575 G6PC1 glucose-6-phosphatase catalytic subunit 1 Xq28 G6PD1 ClinVar:G6PD Ensembl:ENSG00000160211 Genatlas:G6PD HGNC:4057 OMIM:305900 Reactome:P11413 SwissProt:P11413 G6PD glucose-6-phosphate dehydrogenase 17q25.3 Pompe disease glycogen storage disease type II ClinVar:GAA Ensembl:ENSG00000171298 Genatlas:GAA HGNC:4065 IUPHAR:2611 OMIM:606800 Reactome:P10253 SwissProt:P10253 GAA alpha glucosidase 5q34 EJM5 GABA(A) receptor, alpha 1 ClinVar:GABRA1 Ensembl:ENSG00000022355 Genatlas:GABRA1 HGNC:4075 IUPHAR:404 OMIM:137160 Reactome:P14867 SwissProt:P14867 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 1p36.33 GABA(A) receptor, delta GABAARdelta ClinVar:GABRD Ensembl:ENSG00000187730 Genatlas:GABRD HGNC:4084 IUPHAR:416 OMIM:137163 SwissProt:O14764 GABRD gamma-aminobutyric acid type A receptor subunit delta 5q34 GABA(A) receptor, gamma 2 ClinVar:GABRG2 Ensembl:ENSG00000113327 Genatlas:GABRG2 HGNC:4087 IUPHAR:414 OMIM:137164 Reactome:P18507 SwissProt:P18507 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 14q31.3 Krabbe disease ClinVar:GALC Ensembl:ENSG00000054983 Genatlas:GALC HGNC:4115 OMIM:606890 Reactome:P54803 SwissProt:P54803 GALC galactosylceramidase 1p36.11 SDR1E1 UDP-glucose 4-epimerase short chain dehydrogenase/reductase family 1E, member 1 ClinVar:GALE Ensembl:ENSG00000117308 Genatlas:GALE HGNC:4116 OMIM:606953 Reactome:Q14376 SwissProt:Q14376 GALE UDP-galactose-4-epimerase 17q25.1 ClinVar:GALK1 Ensembl:ENSG00000108479 Genatlas:GALK1 HGNC:4118 OMIM:604313 Reactome:P51570 SwissProt:P51570 GALK1 galactokinase 1 Hornstein-Knickenberg syndrome A rare inherited cancer-predisposing syndrome characterized by skin lesions, benign and malignant kidney tumors, and pulmonary cysts that may be associated with pneumothorax. Orphanet ICD-10:C44.9 ICD-11:LD27.5 MONDO:0800445 MeSH:D058249 MedDRA:10067736 OMIM:135150 UMLS:C0346010 Autosomal dominant Adolescent Adult Childhood Elderly Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=122 Birt-Hogg-Dubé syndrome ORPHA:122 ICD-10:C44.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0800445 E (Exact mapping: the two concepts are equivalent) MeSH:D058249 E (Exact mapping: the two concepts are equivalent) MedDRA:10067736 E (Exact mapping: the two concepts are equivalent) OMIM:135150 E (Exact mapping: the two concepts are equivalent) UMLS:C0346010 E (Exact mapping: the two concepts are equivalent) 16q24.3 GALNAC6S GAS GalN6S Morquio syndrome N-acetylgalactosamine-6-sulfatase chondroitinase chondroitinsulfatase galactose-6-sulfate sulfatase mucopolysaccharidosis type IVA ClinVar:GALNS Ensembl:ENSG00000141012 Genatlas:GALNS HGNC:4122 IUPHAR:2765 OMIM:612222 Reactome:P34059 SwissProt:P34059 GALNS galactosamine (N-acetyl)-6-sulfatase 2q24.3 GalNAc-T3 HFTC HHS polypeptide GalNAc transferase 3 ClinVar:GALNT3 Ensembl:ENSG00000115339 Genatlas:GALNT3 HGNC:4125 OMIM:601756 Reactome:Q14435 SwissProt:Q14435 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 9p13.3 ClinVar:GALT Ensembl:ENSG00000213930 Genatlas:GALT HGNC:4135 OMIM:606999 Reactome:P07902 SwissProt:P07902 GALT galactose-1-phosphate uridylyltransferase 19p13.3 PIG2 TP53I2 ClinVar:GAMT Ensembl:ENSG00000130005 Genatlas:GAMT HGNC:4136 OMIM:601240 Reactome:Q14353 SwissProt:Q14353 GAMT guanidinoacetate N-methyltransferase 16q23.2 GAN1 GIG KLHL16 kelch-like family member 16 ClinVar:GAN Ensembl:ENSG00000261609 Genatlas:GAN HGNC:4137 OMIM:605379 Reactome:Q9H2C0 SwissProt:Q9H2C0 GAN gigaxonin 7p14.3 DSMAV GlyRS SMAD1 glycine tRNA ligase ClinVar:GARS Ensembl:ENSG00000106105 Genatlas:GARS HGNC:4162 OMIM:600287 Reactome:P41250 SwissProt:P41250 GARS1 glycyl-tRNA synthetase 1 Xp11.23 ERYF1 GATA-1 NF-E1 NFE1 nuclear factor, erythroid 1 ClinVar:GATA1 Ensembl:ENSG00000102145 Genatlas:GATA1 HGNC:4170 OMIM:305371 Reactome:P15976 SwissProt:P15976 GATA1 GATA binding protein 1 10p14 HDR ClinVar:GATA3 Ensembl:ENSG00000107485 Genatlas:GATA3 HGNC:4172 OMIM:131320 Reactome:P23771 SwissProt:P23771 GATA3 GATA binding protein 3 8p23.1 ClinVar:GATA4 Ensembl:ENSG00000136574 Genatlas:GATA4 HGNC:4173 OMIM:600576 Reactome:P43694 SwissProt:P43694 GATA4 GATA binding protein 4 15q21.1 AGAT L-arginine:glycine amidinotransferase ClinVar:GATM Ensembl:ENSG00000171766 Genatlas:GATM HGNC:4175 IUPHAR:1246 OMIM:602360 Reactome:P50440 SwissProt:P50440 GATM glycine amidinotransferase 1q22 GBA1 glucocerebrosidase ClinVar:GBA Ensembl:ENSG00000177628 Genatlas:GBA HGNC:4177 IUPHAR:2978 OMIM:606463 Reactome:P04062 SwissProt:P04062 GBA1 glucosylceramidase beta 1 3p12.2 Andersen disease glycogen branching enzyme glycogen storage disease type IV ClinVar:GBE1 Ensembl:ENSG00000114480 Genatlas:GBE1 HGNC:4180 OMIM:607839 Reactome:Q04446 SwissProt:Q04446 GBE1 1,4-alpha-glucan branching enzyme 1 19p13.13 ACAD5 GCD ClinVar:GCDH Ensembl:ENSG00000105607 Genatlas:GCDH HGNC:4189 OMIM:608801 Reactome:Q92947 SwissProt:Q92947 GCDH glutaryl-CoA dehydrogenase 14q22.2 DYT5a GTP cyclohydrolase I GTPCH1 dopa-responsive dystonia ClinVar:GCH1 Ensembl:ENSG00000131979 Genatlas:GCH1 HGNC:4193 OMIM:600225 Reactome:P30793 SwissProt:P30793 GCH1 GTP cyclohydrolase 1 7p13 HK4 HKIV hexokinase 4 ClinVar:GCK Ensembl:ENSG00000106633 Genatlas:GCK HGNC:4195 IUPHAR:2798 OMIM:138079 Reactome:P35557 SwissProt:P35557 GCK glucokinase 6p12.1 GCS ClinVar:GCLC Ensembl:ENSG00000001084 Genatlas:GCLC HGNC:4311 OMIM:606857 Reactome:P48506 SwissProt:P48506 GCLC glutamate-cysteine ligase catalytic subunit 16q23.2 lipoic acid-containing protein ClinVar:GCSH Ensembl:ENSG00000140905 Genatlas:GCSH HGNC:4208 IUPHAR:3098 OMIM:238330 Reactome:P23434 SwissProt:P23434 GCSH glycine cleavage system protein H 8q21.11 CMT2K CMT4 ClinVar:GDAP1 Ensembl:ENSG00000104381 Genatlas:GDAP1 HGNC:15968 OMIM:606598 SwissProt:Q8TB36 GDAP1 ganglioside induced differentiation associated protein 1 20q11.22 BMP14 CDMP1 cartilage-derived morphogenetic protein-1 ClinVar:GDF5 Ensembl:ENSG00000125965 Genatlas:GDF5 HGNC:4220 OMIM:601146 Reactome:P43026 SwissProt:P43026 GDF5 growth differentiation factor 5 Xq28 FLJ41411 OPHN2 RABGDIA XAP-4 mental retardation, X-linked 41 mental retardation, X-linked 48 oligophrenin-2 rab GDP-dissociation inhibitor, alpha ClinVar:GDI1 Ensembl:ENSG00000203879 Genatlas:GDI1 HGNC:4226 OMIM:300104 Reactome:P31150 SwissProt:P31150 GDI1 GDP dissociation inhibitor 1 5p13.2 ATF1 ATF2 HFB1-GDNF astrocyte-derived trophic factor glial cell line derived neurotrophic factor glial derived neurotrophic factor ClinVar:GDNF Ensembl:ENSG00000168621 Genatlas:GDNF HGNC:4232 OMIM:600837 Reactome:P39905 SwissProt:P39905 GDNF glial cell derived neurotrophic factor 17q21.31 FLJ45472 intermediate filament protein ClinVar:GFAP Ensembl:ENSG00000131095 Genatlas:GFAP HGNC:4235 OMIM:137780 Reactome:P14136 SwissProt:P14136 GFAP glial fibrillary acidic protein 1p22.1 GFI-1 GFI1A ClinVar:GFI1 Ensembl:ENSG00000162676 Genatlas:GFI1 HGNC:4237 OMIM:600871 Reactome:Q99684 SwissProt:Q99684 GFI1 growth factor independent 1 transcriptional repressor 2p11.2 VKCFD1 peptidyl-glutamate 4-carboxylase vitamin K-dependent gamma-carboxylase ClinVar:GGCX Ensembl:ENSG00000115486 Genatlas:GGCX HGNC:4247 IUPHAR:1268 OMIM:137167 Reactome:P38435 SwissProt:P38435 GGCX gamma-glutamyl carboxylase 17q23.3 GH GH-N GHN hGH-N pituitary growth hormone somatotropin ClinVar:GH1 Ensembl:ENSG00000259384 Genatlas:GH1 HGNC:4261 OMIM:139250 Reactome:P01241 SwissProt:P01241 GH1 growth hormone 1 5p13.1-p12 GHBP growth hormone binding protein ClinVar:GHR Ensembl:ENSG00000112964 Genatlas:GHR HGNC:4263 IUPHAR:1720 OMIM:600946 Reactome:P10912 SwissProt:P10912 GHR growth hormone receptor 7p14.3 ClinVar:GHRHR Ensembl:ENSG00000106128 Genatlas:GHRHR HGNC:4266 IUPHAR:247 OMIM:139191 Reactome:Q02643 SwissProt:Q02643 GHRHR growth hormone releasing hormone receptor 11q12.1 IF IFMH INF TCN3 ClinVar:GIF Ensembl:ENSG00000134812 Genatlas:GIF HGNC:4268 OMIM:609342 Reactome:P27352 SwissProt:P27352 CBLIF cobalamin binding intrinsic factor A rare skin disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands. Orphanet ICD-10:K13.0 ICD-11:DA00.0 MONDO:0007313 MeSH:C535921 OMIM:118330 UMLS:C0267034 Not applicable Adolescent Adult Childhood Elderly Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1221 Cheilitis glandularis ORPHA:1221 ICD-10:K13.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:DA00.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007313 E (Exact mapping: the two concepts are equivalent) MeSH:C535921 E (Exact mapping: the two concepts are equivalent) OMIM:118330 E (Exact mapping: the two concepts are equivalent) UMLS:C0267034 E (Exact mapping: the two concepts are equivalent) 6q22.31 CX43 ODD ODOD SDTY3 connexin 43 oculodentodigital dysplasia (syndactyly type III) ClinVar:GJA1 Ensembl:ENSG00000152661 Genatlas:GJA1 HGNC:4274 IUPHAR:728 OMIM:121014 Reactome:P17302 SwissProt:P17302 GJA1 gap junction protein alpha 1 1q42.13 CX46.6 CX47 SPG44 connexin 47 ClinVar:GJC2 Ensembl:ENSG00000198835 Genatlas:GJC2 HGNC:17494 IUPHAR:731 OMIM:608803 Reactome:Q5T442 SwissProt:Q5T442 GJC2 gap junction protein gamma 2 13q12.11 CX46 connexin 46 ClinVar:GJA3 Ensembl:ENSG00000121743 Genatlas:GJA3 HGNC:4277 IUPHAR:730 OMIM:121015 Reactome:Q9Y6H8 SwissProt:Q9Y6H8 GJA3 gap junction protein alpha 3 1q21.2 CX50 connexin 50 ClinVar:GJA8 Ensembl:ENSG00000121634 Genatlas:GJA8 HGNC:4281 IUPHAR:732 OMIM:600897 Reactome:P48165 SwissProt:P48165 GJA8 gap junction protein alpha 8 Xq13.1 CX32 Charcot-Marie-Tooth neuropathy, X-linked connexin 32 ClinVar:GJB1 Ensembl:ENSG00000169562 Genatlas:GJB1 HGNC:4283 IUPHAR:723 OMIM:304040 Reactome:P08034 SwissProt:P08034 GJB1 gap junction protein beta 1 13q12.11 CX26 NSRD1 connexin 26 ClinVar:GJB2 Ensembl:ENSG00000165474 Genatlas:GJB2 HGNC:4284 IUPHAR:716 OMIM:121011 Reactome:P29033 SwissProt:P29033 GJB2 gap junction protein beta 2 1p34.3 CX31 connexin 31 ClinVar:GJB3 Ensembl:ENSG00000188910 Genatlas:GJB3 HGNC:4285 IUPHAR:720 OMIM:603324 Reactome:O75712 SwissProt:O75712 GJB3 gap junction protein beta 3 1p34.3 CX30.3 connexin 30.3 ClinVar:GJB4 Ensembl:ENSG00000189433 Genatlas:GJB4 HGNC:4286 IUPHAR:719 OMIM:605425 Reactome:Q9NTQ9 SwissProt:Q9NTQ9 GJB4 gap junction protein beta 4 13q12.11 CX30 EDH HED connexin 30 ClinVar:GJB6 Ensembl:ENSG00000121742 Genatlas:GJB6 HGNC:4288 IUPHAR:717 OMIM:604418 Reactome:O95452 SwissProt:O95452 GJB6 gap junction protein beta 6 Xp21.2 GK1 GKD ClinVar:GK Ensembl:ENSG00000198814 Genatlas:GK HGNC:4289 OMIM:300474 Reactome:P32189 SwissProt:P32189 GK glycerol kinase Xq22.1 GALA ClinVar:GLA Ensembl:ENSG00000102393 Genatlas:GLA HGNC:4296 OMIM:300644 Reactome:P06280 SwissProt:P06280 GLA galactosidase alpha 3p22.3 EBP elastin binding protein ClinVar:GLB1 Ensembl:ENSG00000170266 Genatlas:GLB1 HGNC:4298 OMIM:611458 Reactome:P16278 SwissProt:P16278 GLB1 galactosidase beta 1 9p24.1 GCSP NKH glycine cleavage system protein P glycine dehydrogenase nonketotic hyperglycinemia ClinVar:GLDC Ensembl:ENSG00000178445 Genatlas:GLDC HGNC:4313 OMIM:238300 Reactome:P23378 SwissProt:P23378 GLDC glycine decarboxylase 7p14.1 ACLS DNA-binding protein PAP-A PAPA PAPA1 PAPB PPDIV oncogene GLI3 zinc finger protein GLI3 ClinVar:GLI3 Ensembl:ENSG00000106571 Genatlas:GLI3 HGNC:4319 OMIM:165240 Reactome:P10071 SwissProt:P10071 GLI3 GLI family zinc finger 3 1p22.1 FAP48 FAP68 FKBPAP GLML GVM ClinVar:GLMN Ensembl:ENSG00000174842 Genatlas:GLMN HGNC:14373 OMIM:601749 Reactome:Q92990 SwissProt:Q92990 GLMN glomulin, FKBP associated protein 5q33.1 stiff person syndrome ClinVar:GLRA1 Ensembl:ENSG00000145888 Genatlas:GLRA1 HGNC:4326 IUPHAR:423 OMIM:138491 Reactome:P23415 SwissProt:P23415 GLRA1 glycine receptor alpha 1 4q32.1 ClinVar:GLRB Ensembl:ENSG00000109738 Genatlas:GLRB HGNC:4329 IUPHAR:427 OMIM:138492 Reactome:P48167 SwissProt:P48167 GLRB glycine receptor beta 10q23.2 GDH GDH1 hGDH1 ClinVar:GLUD1 Ensembl:ENSG00000148672 Genatlas:GLUD1 HGNC:4335 OMIM:138130 Reactome:P00367 SwissProt:P00367 GLUD1 glutamate dehydrogenase 1 5q33.1 GM2-AP GM2-activator protein GM2AP SAP-3 cerebroside sulfate activator protein sphingolipid activator protein 3 ClinVar:GM2A Ensembl:ENSG00000196743 Genatlas:GM2A HGNC:4367 OMIM:613109 Reactome:P17900 SwissProt:P17900 GM2A ganglioside GM2 activator 20q13.32 G protein subunit alpha S GNASXL GPSA NESP NESP55 SCG6 SgVI secretogranin VI ClinVar:GNAS Ensembl:ENSG00000087460 Genatlas:GNAS HGNC:4392 OMIM:139320 Reactome:P63092 SwissProt:O95467 SwissProt:P63092 SwissProt:P84996 SwissProt:Q5JWF2 GNAS GNAS complex locus 3p21.31 CSNBAD3 ClinVar:GNAT1 Ensembl:ENSG00000114349 Genatlas:GNAT1 HGNC:4393 OMIM:139330 Reactome:P11488 SwissProt:P11488 GNAT1 G protein subunit alpha transducin 1 1p13.3 ACHM4 ClinVar:GNAT2 Ensembl:ENSG00000134183 Genatlas:GNAT2 HGNC:4394 OMIM:139340 Reactome:P19087 SwissProt:P19087 GNAT2 G protein subunit alpha transducin 2 9p13.3 Uae1 bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase ClinVar:GNE Ensembl:ENSG00000159921 Genatlas:GNE HGNC:23657 OMIM:603824 Reactome:Q9Y223 SwissProt:Q9Y223 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 1q42.2 DAP-AT DAPAT DHAPAT dihydroxyacetone phosphate acyltransferase glycerone-phosphate O-acyltransferase ClinVar:GNPAT Ensembl:ENSG00000116906 Genatlas:GNPAT HGNC:4416 OMIM:602744 Reactome:O15228 SwissProt:O15228 GNPAT glyceronephosphate O-acyltransferase 12q23.2 KIAA1208 MGC4170 ClinVar:GNPTAB Ensembl:ENSG00000111670 Genatlas:GNPTAB HGNC:29670 OMIM:607840 Reactome:Q3T906 SwissProt:Q3T906 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 16p13.3 CAB56184 GlcNAc-phosphotransferase gamma-subunit c316G12.3 ClinVar:GNPTG Ensembl:ENSG00000090581 Genatlas:GNPTG HGNC:23026 OMIM:607838 SwissProt:Q9UJJ9 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma 4q13.2 LHRHR ClinVar:GNRHR Ensembl:ENSG00000109163 Genatlas:GNRHR HGNC:4421 IUPHAR:256 OMIM:138850 Reactome:P30968 SwissProt:P30968 GNRHR gonadotropin releasing hormone receptor 12q14.3 N-acetylglucosamine-6-sulfatase Sanfilippo disease IIID ClinVar:GNS Ensembl:ENSG00000135677 Genatlas:GNS HGNC:4422 OMIM:607664 Reactome:P15586 SwissProt:P15586 GNS glucosamine (N-acetyl)-6-sulfatase 14q32.12 GOLIM5 golgi integral membrane protein 5 golgin-84 ret-II rfg5 ClinVar:GOLGA5 Ensembl:ENSG00000066455 Genatlas:GOLGA5 HGNC:4428 OMIM:606918 Reactome:Q8TBA6 SwissProt:Q8TBA6 GOLGA5 golgin A5 17p13.2 CD42b GPIbalpha platelet glycoprotein Ib alpha chain ClinVar:GP1BA Ensembl:ENSG00000185245 Genatlas:GP1BA HGNC:4439 OMIM:606672 Reactome:P07359 SwissProt:P07359 GP1BA glycoprotein Ib platelet subunit alpha 22q11.21 CD42c GPIbbeta platelet glycoprotein Ib beta chain ClinVar:GP1BB Ensembl:ENSG00000203618 Genatlas:GP1BB HGNC:4440 OMIM:138720 Reactome:P13224 SwissProt:P13224 GP1BB glycoprotein Ib platelet subunit beta 3q21.3 CD42a GPIX platelet glycoprotein IX ClinVar:GP9 Ensembl:ENSG00000169704 Genatlas:GP9 HGNC:4444 OMIM:173515 Reactome:P14770 SwissProt:P14770 GP9 glycoprotein IX platelet Xq26.2 DGSX OCI-5 SGB SGBS SGBS1 glypican proteoglycan 3 ClinVar:GPC3 Ensembl:ENSG00000147257 Genatlas:GPC3 HGNC:4451 IUPHAR:2959 OMIM:300037 Reactome:P51654 SwissProt:P51654 GPC3 glypican 3 14q23.3 GEPH GPH KIAA1385 ClinVar:GPHN Ensembl:ENSG00000171723 Genatlas:GPHN HGNC:15465 OMIM:603930 Reactome:Q9NQX3 SwissProt:Q9NQX3 GPHN gephyrin 19q13.11 AMF NLK ClinVar:GPI Ensembl:ENSG00000105220 Genatlas:GPI HGNC:4458 OMIM:172400 Reactome:P06744 SwissProt:P06744 GPI glucose-6-phosphate isomerase Xp22.2 ocular albinism 1 ClinVar:GPR143 Ensembl:ENSG00000101850 Genatlas:GPR143 HGNC:20145 IUPHAR:203 OMIM:300808 Reactome:P51810 SwissProt:P51810 GPR143 G protein-coupled receptor 143 16q21 TM7LN4 TM7XN1 ClinVar:GPR56 Ensembl:ENSG00000205336 Genatlas:GPR56 HGNC:4512 IUPHAR:186 OMIM:604110 SwissProt:Q9Y653 ADGRG1 adhesion G protein-coupled receptor G1 5q14.3 DKFZp761P0710 FEB4 KIAA0686 VLGR1 ClinVar:ADGRV1 Ensembl:ENSG00000164199 Genatlas:ADGRV1 HGNC:17416 IUPHAR:189 OMIM:602851 SwissProt:Q8WXG9 ADGRV1 adhesion G protein-coupled receptor V1 9p13.2 PH2 primary hyperoxaluria type 2 ClinVar:GRHPR Ensembl:ENSG00000137106 Genatlas:GRHPR HGNC:4570 OMIM:604296 Reactome:Q9UBQ7 SwissProt:Q9UBQ7 GRHPR glyoxylate and hydroxypyruvate reductase Xq25 AMPA receptor subunit GluA3 GLURC GluA3 GluR-3 GluR-C GluR-K3 Glutamate receptor 3 MRX94 iGluR3 ClinVar:GRIA3 Ensembl:ENSG00000125675 Genatlas:GRIA3 HGNC:4573 IUPHAR:446 OMIM:305915 Reactome:P42263 SwissProt:P42263 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 13q34 GPRK1 RK ClinVar:GRK1 Ensembl:ENSG00000185974 Genatlas:GRK1 HGNC:10013 IUPHAR:1465 OMIM:180381 Reactome:Q15835 SwissProt:Q15835 GRK1 G protein-coupled receptor kinase 1 5q35.3 CSNB1B GPRC1F MGLUR6 mGlu6 ClinVar:GRM6 Ensembl:ENSG00000113262 Genatlas:GRM6 HGNC:4598 IUPHAR:294 OMIM:604096 Reactome:O15303 SwissProt:O15303 GRM6 glutamate metabotropic receptor 6 9q33.2 DKFZp313L0718 amyloidosis, Finnish type ClinVar:GSN Ensembl:ENSG00000148180 Genatlas:GSN HGNC:4620 OMIM:137350 Reactome:P06396 SwissProt:P06396 GSN gelsolin 8p12 glutathione S-reductase ClinVar:GSR Ensembl:ENSG00000104687 Genatlas:GSR HGNC:4623 IUPHAR:2613 OMIM:138300 Reactome:P00390 SwissProt:P00390 GSR glutathione-disulfide reductase Balantidiosis Ciliary dysentery Balantidiasis is an infectious disease, rare in western countries. It is caused by <I>Balantidium coli</I>, a single celled parasite (ciliate protozoan) that is usually associated with intestinal infection in areas associated with pig rearing. It infects humans occasionally, mostly immunocompromised patients. Some infected people may have no symptoms or only mild diarrhea and abdominal discomfort but others may experience more severe symptoms reminiscent of an acute inflammation of the intestines. Symptoms of Balantidiasis may be similar to those of other infections that cause intestinal inflammation, for example, amoebic dysentery. On very rare occasions this bacterium may invade extra-intestinal organs, mostly the lungs. Metronidazole is the treatment of choice. Orphanet ICD-10:A07.0 ICD-11:1A30 MONDO:0005662 MeSH:D001447 MedDRA:10004080 UMLS:C0004692 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1223 Balantidiasis ORPHA:1223 ICD-10:A07.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A30 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0005662 E (Exact mapping: the two concepts are equivalent) MeSH:D001447 E (Exact mapping: the two concepts are equivalent) MedDRA:10004080 E (Exact mapping: the two concepts are equivalent) UMLS:C0004692 E (Exact mapping: the two concepts are equivalent) 20q11.22 ClinVar:GSS Ensembl:ENSG00000100983 Genatlas:GSS HGNC:4624 OMIM:601002 Reactome:P48637 SwissProt:P48637 GSS glutathione synthetase 6q25.3 DNA repair syndrome trichothiodystrophy group A FLJ30544 TFB5 TFIIH TTD-A TTDA bA120J8.2 ClinVar:GTF2H5 Ensembl:ENSG00000272047 Genatlas:GTF2H5 HGNC:21157 OMIM:608780 Reactome:Q6ZYL4 SwissProt:Q6ZYL4 GTF2H5 general transcription factor IIH subunit 5 7q11.23 BAP-135 BTKAP1 DIWS IB291 SPIN TFII-I ClinVar:GTF2I Ensembl:ENSG00000263001 Genatlas:GTF2I HGNC:4659 OMIM:601679 Reactome:P78347 SwissProt:P78347 GTF2I general transcription factor IIi 7q11.23 BEN Cream1 GTF3 MusTRD1 RBAP2 WBSCR12 binding factor for early enhancer ClinVar:GTF2IRD1 Ensembl:ENSG00000006704 Genatlas:GTF2IRD1 HGNC:4661 OMIM:604318 Reactome:Q9UHL9 SwissProt:Q9UHL9 GTF2IRD1 GTF2I repeat domain containing 1 6p21.1 COD3 CORD14 GCAP GCAP-1 GCAP-I GCAP1 cone dystrophy 3 dJ139D8.6 ClinVar:GUCA1A Ensembl:ENSG00000048545 Genatlas:GUCA1A HGNC:4678 OMIM:600364 Reactome:P43080 SwissProt:P43080 GUCA1A guanylate cyclase activator 1A 17p13.1 CYGD LCA1 Leber congenital amaurosis 1 RETGC-1 ROS-GC ROS-GC1 retGC retinal guanylate cyclase 1 rod outer segment membrane guanylate cyclase ClinVar:GUCY2D Ensembl:ENSG00000132518 Genatlas:GUCY2D HGNC:4689 IUPHAR:2031 OMIM:600179 Reactome:Q02846 SwissProt:Q02846 GUCY2D guanylate cyclase 2D, retinal 7q11.21 ClinVar:GUSB Ensembl:ENSG00000169919 Genatlas:GUSB HGNC:4696 OMIM:611499 Reactome:P08236 SwissProt:P08236 GUSB glucuronidase beta 12p12.1 ClinVar:GYS2 Ensembl:ENSG00000111713 Genatlas:GYS2 HGNC:4707 OMIM:138571 Reactome:P54840 SwissProt:P54840 GYS2 glycogen synthase 2 4q25 HADH1 SCHAD ClinVar:HADH Ensembl:ENSG00000138796 Genatlas:HADH HGNC:4799 OMIM:601609 Reactome:Q16836 SwissProt:Q16836 HADH hydroxyacyl-CoA dehydrogenase 12q23.1 ClinVar:HAL Ensembl:ENSG00000084110 Genatlas:HAL HGNC:4806 OMIM:609457 Reactome:P42357 SwissProt:P42357 HAL histidine ammonia-lyase 19q13.12 HEPC HFE2B LEAP-1 LEAP1 ClinVar:HAMP Ensembl:ENSG00000105697 Genatlas:HAMP HGNC:15598 OMIM:606464 SwissProt:P81172 HAMP hepcidin antimicrobial peptide 1q21.3 HAX-1 HCLS1 (and PKD2) associated protein HCLSBP1 HS1BP1 ClinVar:HAX1 Ensembl:ENSG00000143575 Genatlas:HAX1 HGNC:16915 OMIM:605998 Reactome:O00165 SwissProt:O00165 HAX1 HCLS1 associated protein X-1 16p13.3 HBA-T2 ClinVar:HBA2 Ensembl:ENSG00000188536 Genatlas:HBA2 HGNC:4824 OMIM:141850 Reactome:P69905 SwissProt:P69905 HBA2 hemoglobin subunit alpha 2 11p15.4 CD113t-C beta-globin ClinVar:HBB Ensembl:ENSG00000244734 Genatlas:HBB HGNC:4827 OMIM:141900 Reactome:P68871 SwissProt:P68871 HBB hemoglobin subunit beta Xp22.2 CCHL cytochrome c heme-lyase holocytochrome-c synthetase ClinVar:HCCS Ensembl:ENSG00000004961 Genatlas:HCCS HGNC:4837 OMIM:300056 SwissProt:P53701 HCCS holocytochrome c synthase 15q24.1 ClinVar:HCN4 Ensembl:ENSG00000138622 Genatlas:HCN4 HGNC:16882 IUPHAR:403 OMIM:605206 Reactome:Q9Y3Q4 SwissProt:Q9Y3Q4 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 17q21.2 OX PPOX orexin prepro-orexin ClinVar:HCRT Ensembl:ENSG00000161610 Genatlas:HCRT HGNC:4847 OMIM:602358 Reactome:O43612 SwissProt:O43612 HCRT hypocretin neuropeptide precursor 4p16.3 IT15 ClinVar:HTT Ensembl:ENSG00000197386 Genatlas:HTT HGNC:4851 OMIM:613004 Reactome:P42858 SwissProt:P42858 HTT huntingtin 3p14.3 ANF RPX Rathke's pouch homeobox ClinVar:HESX1 Ensembl:ENSG00000163666 Genatlas:HESX1 HGNC:4877 OMIM:601802 Reactome:Q9UBX0 SwissProt:Q9UBX0 HESX1 HESX homeobox 1 15q23 GM2 gangliosidosis Tay Sachs disease beta-hexosaminidase subunit alpha ClinVar:HEXA Ensembl:ENSG00000213614 Genatlas:HEXA HGNC:4878 OMIM:606869 Reactome:P06865 SwissProt:P06865 HEXA hexosaminidase subunit alpha 5q13.3 beta-hexosaminidase subunit beta ClinVar:HEXB Ensembl:ENSG00000049860 Genatlas:HEXB HGNC:4879 OMIM:606873 Reactome:P07686 SwissProt:P07686 HEXB hexosaminidase subunit beta 3q13.33 HGO homogentisate oxidase ClinVar:HGD Ensembl:ENSG00000113924 Genatlas:HGD HGNC:4892 OMIM:607474 Reactome:Q93099 SwissProt:Q93099 HGD homogentisate 1,2-dioxygenase 8p11.21-p11.1 FLJ32731 HGNAT ClinVar:HGSNAT Ensembl:ENSG00000165102 Genatlas:HGSNAT HGNC:26527 OMIM:610453 Reactome:Q68CP4 SwissProt:Q68CP4 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 17p13.3 ZBTB29 ZNF901 ClinVar:HIC1 Ensembl:ENSG00000177374 Genatlas:HIC1 HGNC:4909 OMIM:603825 Reactome:Q14526 SwissProt:Q14526 HIC1 HIC ZBTB transcriptional repressor 1 10q22.1 HKI ClinVar:HK1 Ensembl:ENSG00000156515 Genatlas:HK1 HGNC:4922 OMIM:142600 Reactome:P19367 SwissProt:P19367 HK1 hexokinase 1 6p21.33 ClinVar:HLA-B Ensembl:ENSG00000234745 Genatlas:HLA-B HGNC:4932 OMIM:142830 Reactome:P30486 SwissProt:P01889 HLA-B major histocompatibility complex, class I, B 6p21.32 ClinVar:HLA-DRA Ensembl:ENSG00000204287 Genatlas:HLA-DRA HGNC:4947 OMIM:142860 Reactome:P01903 SwissProt:P01903 HLA-DRA major histocompatibility complex, class II, DR alpha 6p21.32 ClinVar:HLA-DRB1 Ensembl:ENSG00000196126 Genatlas:HLA-DRB1 HGNC:4948 OMIM:142857 Reactome:P04229 SwissProt:P01911 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 21q22.13 HCS biotin--protein ligase ClinVar:HLCS Ensembl:ENSG00000159267 Genatlas:HLCS HGNC:4976 OMIM:609018 Reactome:P50747 SwissProt:P50747 HLCS holocarboxylase synthetase 11q23.3 ClinVar:HMBS Ensembl:ENSG00000256269 Genatlas:HMBS HGNC:4982 OMIM:609806 Reactome:P08397 SwissProt:P08397 HMBS hydroxymethylbilane synthase 1p36.11 HL HMG-CoA lyase HMGCL1 Hydroxymethylglutaryl-CoA lyase, mitochondrial hydroxymethylglutaricaciduria hydroxymethylglutaryl-CoA lyase ClinVar:HMGCL Ensembl:ENSG00000117305 Genatlas:HMGCL HGNC:5005 OMIM:613898 Reactome:P35914 SwissProt:P35914 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase 1p12 ClinVar:HMGCS2 Ensembl:ENSG00000134240 Genatlas:HMGCS2 HGNC:5008 IUPHAR:2432 OMIM:600234 Reactome:P54868 SwissProt:P54868 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 20q13.12 HNF4 NR2A1 ClinVar:HNF4A Ensembl:ENSG00000101076 Genatlas:HNF4A HGNC:5024 IUPHAR:608 OMIM:600281 Reactome:P41235 SwissProt:P41235 HNF4A hepatocyte nuclear factor 4 alpha 7p15.2 ClinVar:HOXA13 Ensembl:ENSG00000106031 Genatlas:HOXA13 HGNC:5102 OMIM:142959 SwissProt:P31271 HOXA13 homeobox A13 2q31.1 synpolydactyly ClinVar:HOXD13 Ensembl:ENSG00000128714 Genatlas:HOXD13 HGNC:5136 OMIM:142989 Reactome:P35453 SwissProt:P35453 HOXD13 homeobox D13 12q24.31 4-HPPD 4HPPD GLOD3 HPPD glyoxalase domain containing 3 ClinVar:HPD Ensembl:ENSG00000158104 Genatlas:HPD HGNC:5147 IUPHAR:2621 OMIM:609695 Reactome:P32754 SwissProt:P32754 HPD 4-hydroxyphenylpyruvate dioxygenase Xq26.2-q26.3 HGPRT Lesch-Nyhan syndrome hypoxanthine guanine phosphoribosyl transferase ClinVar:HPRT1 Ensembl:ENSG00000165704 Genatlas:HPRT1 HGNC:5157 OMIM:308000 Reactome:P00492 SwissProt:P00492 HPRT1 hypoxanthine phosphoribosyltransferase 1 10q24.2 BLOC3S1 ClinVar:HPS1 Ensembl:ENSG00000107521 Genatlas:HPS1 HGNC:5163 OMIM:604982 Reactome:Q92902 SwissProt:Q92902 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 3q24 BLOC2S1 SUTAL ClinVar:HPS3 Ensembl:ENSG00000163755 Genatlas:HPS3 HGNC:15597 OMIM:606118 SwissProt:Q969F9 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 22q12.1 BLOC3S2 KIAA1667 LE ClinVar:HPS4 Ensembl:ENSG00000100099 Genatlas:HPS4 HGNC:15844 OMIM:606682 Reactome:Q9NQG7 SwissProt:Q9NQG7 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 11p15.1 AIBP63 BLOC2S2 RU2 Ruby-eye protein 2 homolog alpha-integrin-binding protein 63 ClinVar:HPS5 Ensembl:ENSG00000110756 Genatlas:HPS5 HGNC:17022 OMIM:607521 SwissProt:Q9UPZ3 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 10q24.32 BLOC2S3 FLJ22501 ClinVar:HPS6 Ensembl:ENSG00000166189 Genatlas:HPS6 HGNC:18817 OMIM:607522 SwissProt:Q86YV9 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 8p21.3 AU ClinVar:HR Ensembl:ENSG00000168453 Genatlas:HR HGNC:5172 OMIM:602302 Reactome:O43593 SwissProt:O43593 HR HR lysine demethylase and nuclear receptor corepressor 11p15.5 ClinVar:HRAS Ensembl:ENSG00000174775 Genatlas:HRAS HGNC:5173 IUPHAR:2822 OMIM:190020 Reactome:P01112 SwissProt:P01112 HRAS HRas proto-oncogene, GTPase Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius). Orphanet ICD-10:Q75.0 ICD-11:LD24.GY MONDO:0009039 MeSH:C536788 MedDRA:10083963 OMIM:218600 UMLS:C0265308 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1225 Baller-Gerold syndrome ORPHA:1225 ICD-10:Q75.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0009039 E (Exact mapping: the two concepts are equivalent) MeSH:C536788 E (Exact mapping: the two concepts are equivalent) MedDRA:10083963 E (Exact mapping: the two concepts are equivalent) OMIM:218600 E (Exact mapping: the two concepts are equivalent) UMLS:C0265308 E (Exact mapping: the two concepts are equivalent) 16q22.1 SDR9C3 short chain dehydrogenase/reductase family 9C, member 3 ClinVar:HSD11B2 Ensembl:ENSG00000176387 Genatlas:HSD11B2 HGNC:5209 IUPHAR:3143 OMIM:614232 Reactome:P80365 SwissProt:P80365 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 Xp11.22 17b-HSD10 AB-binding alcohol dehydrogenase ABAD CAMR ERAB MHBD MRPP2 SDR5C1 mitochondrial RNase P subunit 2 short chain dehydrogenase/reductase family 5C, member 1 type 10 17b-HSD type 10 17beta-hydroxysteroid dehydrogenase ClinVar:HSD17B10 Ensembl:ENSG00000072506 Genatlas:HSD17B10 HGNC:4800 OMIM:300256 Reactome:Q99714 SwissProt:Q99714 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 9q22.32 SDR12C2 short chain dehydrogenase/reductase family 12C, member 2 ClinVar:HSD17B3 Ensembl:ENSG00000130948 Genatlas:HSD17B3 HGNC:5212 OMIM:605573 Reactome:P37058 SwissProt:P37058 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 5q23.1 17-beta-HSD IV 17-beta-hydroxysteroid dehydrogenase 4 17beta-estradiol dehydrogenase type IV 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase D-3-hydroxyacyl-CoA dehydratase D-bifunctional protein, peroxisomal DBP MFE-2 SDR8C1 beta-hydroxyacyl dehydrogenase beta-keto-reductase peroxisomal multifunctional protein 2 short chain dehydrogenase/reductase family 8C, member 1 ClinVar:HSD17B4 Ensembl:ENSG00000133835 Genatlas:HSD17B4 HGNC:5213 OMIM:601860 Reactome:P51659 SwissProt:P51659 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 1p12 SDR11E2 short chain dehydrogenase/reductase family 11E, member 2 ClinVar:HSD3B2 Ensembl:ENSG00000203859 Genatlas:HSD3B2 HGNC:5218 IUPHAR:2622 OMIM:613890 Reactome:P26439 SwissProt:P26439 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 16p11.2 C(27)-3BETA-HSD SDR11E3 short chain dehydrogenase/reductase family 11E, member 3 ClinVar:HSD3B7 Ensembl:ENSG00000099377 Genatlas:HSD3B7 HGNC:18324 OMIM:607764 Reactome:Q9H2F3 SwissProt:Q9H2F3 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 16q22.1 ClinVar:HSF4 Ensembl:ENSG00000102878 Genatlas:HSF4 HGNC:5227 OMIM:602438 SwissProt:Q9ULV5 HSF4 heat shock transcription factor 4 7q11.23 CMT2F HSP27 HSP28 Hs.76067 Hsp25 ClinVar:HSPB1 Ensembl:ENSG00000106211 Genatlas:HSPB1 HGNC:5246 OMIM:602195 Reactome:P04792 SwissProt:P04792 HSPB1 heat shock protein family B (small) member 1 12q24.23 CMT2L E2IG1 H11 HSP22 HspB8 ClinVar:HSPB8 Ensembl:ENSG00000152137 Genatlas:HSPB8 HGNC:30171 OMIM:608014 Reactome:Q9UJY1 SwissProt:Q9UJY1 HSPB8 heat shock protein family B (small) member 8 3q21.1 FLJ22623 PASS1 ClinVar:HSPBAP1 Ensembl:ENSG00000169087 Genatlas:HSPBAP1 HGNC:16389 OMIM:608263 SwissProt:Q96EW2 HSPBAP1 HSPB1 associated protein 1 2q33.1 GROEL GroEL HSP60 ClinVar:HSPD1 Ensembl:ENSG00000144381 Genatlas:HSPD1 HGNC:5261 OMIM:118190 Reactome:P10809 SwissProt:P10809 HSPD1 heat shock protein family D (Hsp60) member 1 1p36.12 PRCAN endorepellin perlecan perlecan proteoglycan ClinVar:HSPG2 Ensembl:ENSG00000142798 Genatlas:HSPG2 HGNC:5273 OMIM:142461 Reactome:P98160 SwissProt:P98160 HSPG2 heparan sulfate proteoglycan 2 2p13.1 OMI PARK13 ClinVar:HTRA2 Ensembl:ENSG00000115317 Genatlas:HTRA2 HGNC:14348 OMIM:606441 Reactome:O43464 SwissProt:O43464 HTRA2 HtrA serine peptidase 2 3p21.31 FUS2 HYAL-1 LUCA1 NAT6 ClinVar:HYAL1 Ensembl:ENSG00000114378 Genatlas:HYAL1 HGNC:5320 OMIM:607071 Reactome:Q12794 SwissProt:Q12794 HYAL1 hyaluronidase 1 11q24.2 FLJ32915 ClinVar:HYLS1 Ensembl:ENSG00000198331 Genatlas:HYLS1 HGNC:26558 OMIM:610693 Reactome:Q96M11 SwissProt:Q96M11 HYLS1 HYLS1 centriolar and ciliogenesis associated 2q33.2 AILIM CD278 activation-inducible lymphocyte immunomediatory molecule ClinVar:ICOS Ensembl:ENSG00000163600 Genatlas:ICOS HGNC:5351 IUPHAR:2939 OMIM:604558 Reactome:Q9Y6W8 SwissProt:Q9Y6W8 ICOS inducible T cell costimulator Xq28 Hunter syndrome ID2S ClinVar:IDS Ensembl:ENSG00000010404 Genatlas:IDS HGNC:5389 OMIM:300823 Reactome:P22304 SwissProt:P22304 IDS iduronate 2-sulfatase 4p16.3 MPS1 MPSI mucopolysaccharidosis type I ClinVar:IDUA Ensembl:ENSG00000127415 Genatlas:IDUA HGNC:5391 OMIM:252800 Reactome:P35475 SwissProt:P35475 IDUA alpha-L-iduronidase 12q15 ClinVar:IFNG Ensembl:ENSG00000111537 Genatlas:IFNG HGNC:5438 OMIM:147570 Reactome:P01579 SwissProt:P01579 IFNG interferon gamma 6q23.3 CD119 ClinVar:IFNGR1 Ensembl:ENSG00000027697 Genatlas:IFNGR1 HGNC:5439 IUPHAR:1725 OMIM:107470 Reactome:P15260 SwissProt:P15260 IFNGR1 interferon gamma receptor 1 21q22.11 AF-1 ClinVar:IFNGR2 Ensembl:ENSG00000159128 Genatlas:IFNGR2 HGNC:5440 IUPHAR:1726 OMIM:147569 Reactome:P38484 SwissProt:P38484 IFNGR2 interferon gamma receptor 2 Xq13.1 a4 alpha 4 α4 ClinVar:IGBP1 Ensembl:ENSG00000089289 Genatlas:IGBP1 HGNC:5461 OMIM:300139 Reactome:P78318 SwissProt:P78318 IGBP1 immunoglobulin binding protein 1 12q23.2 IGF IGF-I IGF1A IGFI somatomedin C ClinVar:IGF1 Ensembl:ENSG00000017427 Genatlas:IGF1 HGNC:5464 OMIM:147440 Reactome:P05019 SwissProt:P05019 IGF1 insulin like growth factor 1 14q32.33 ClinVar:IGHG1 Ensembl:ENSG00000211896 Genatlas:IGHG1 HGNC:5525 OMIM:147100 Reactome:P01857 SwissProt:P01857 IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) 14q32.33 ClinVar:IGHM Ensembl:ENSG00000211899 Genatlas:IGHM HGNC:5541 OMIM:147020 Reactome:P01871 SwissProt:P01871 IGHM immunoglobulin heavy constant mu 11q13.3 CATF1 CMT2S HCSA HMN6 SMARD1 SMUBP2 ZFAND7 cardiac transcription factor 1 zinc finger, AN1-type domain 7 ClinVar:IGHMBP2 Ensembl:ENSG00000132740 Genatlas:IGHMBP2 HGNC:5542 OMIM:600502 SwissProt:P38935 IGHMBP2 immunoglobulin mu DNA binding protein 2 22q11.23 14.1 CD179B IGL5 IGVPB lambda 5 ClinVar:IGLL1 Ensembl:ENSG00000128322 Genatlas:IGLL1 HGNC:5870 OMIM:146770 Reactome:P15814 SwissProt:P15814 IGLL1 immunoglobulin lambda like polypeptide 1 Athyroidal hypothyroidism-spiky hair-cleft palate syndrome Bamforth syndrome Hypothyroidism-cleft palate syndrome A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Orphanet ICD-10:E03.1 ICD-11:5A00.0Y MONDO:0009437 MeSH:C537901 MedDRA:10090559 OMIM:241850 UMLS:C1855794 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1226 Bamforth-Lazarus syndrome ORPHA:1226 ICD-10:E03.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A00.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0009437 E (Exact mapping: the two concepts are equivalent) MeSH:C537901 E (Exact mapping: the two concepts are equivalent) MedDRA:10090559 E (Exact mapping: the two concepts are equivalent) OMIM:241850 E (Exact mapping: the two concepts are equivalent) UMLS:C1855794 E (Exact mapping: the two concepts are equivalent) 2q35 BDA1 HHG2 ClinVar:IHH Ensembl:ENSG00000163501 Genatlas:IHH HGNC:5956 OMIM:600726 Reactome:Q14623 SwissProt:Q14623 IHH Indian hedgehog signaling molecule 9q31.3 IKAP IKI3 TOT1 elongator acetyltransferase complex subunit 1 ClinVar:IKBKAP Ensembl:ENSG00000070061 Genatlas:IKBKAP HGNC:5959 OMIM:603722 Reactome:O95163 SwissProt:O95163 ELP1 elongator complex protein 1 Xq28 14.7K (adenovirus E3 protein) interacting protein 3 FIP-3 FIP3 Fip3p I-kappa-B kinase subunit gamma IKK-gamma IKKAP1 IKKG IkB kinase subunit gamma IkB kinase-associated protein 1 NEMO NF-kappa-B essential modulator ZC2HC9 ClinVar:IKBKG Ensembl:ENSG00000269335 Genatlas:IKBKG HGNC:5961 OMIM:300248 Reactome:Q9Y6K9 SwissProt:Q9Y6K9 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma 1q32.1 CSIF IL-10 IL10A T-cell growth inhibitory factor TGIF cytokine synthesis inhibitory factor ClinVar:IL10 Ensembl:ENSG00000136634 Genatlas:IL10 HGNC:5962 OMIM:124092 Reactome:P22301 SwissProt:P22301 IL10 interleukin 10 5q33.3 CLMF CLMF2 IL-12B IL12, subunit p40 NKSF cytotoxic lymphocyte maturation factor 2, p40 interleukin 12, p40 interleukin-12 beta chain natural killer cell stimulatory factor, 40 kD subunit natural killer cell stimulatory factor-2 ClinVar:IL12B Ensembl:ENSG00000113302 Genatlas:IL12B HGNC:5970 OMIM:161561 Reactome:P29460 SwissProt:P29460 IL12B interleukin 12B 19p13.11 CD212 ClinVar:IL12RB1 Ensembl:ENSG00000096996 Genatlas:IL12RB1 HGNC:5971 IUPHAR:1715 OMIM:601604 Reactome:P42701 SwissProt:P42701 IL12RB1 interleukin 12 receptor subunit beta 1 1p31.3 IL-23R ClinVar:IL23R Ensembl:ENSG00000162594 Genatlas:IL23R HGNC:19100 IUPHAR:1717 OMIM:607562 Reactome:Q5VWK5 SwissProt:Q5VWK5 IL23R interleukin 23 receptor Xq13.1 CD132 ClinVar:IL2RG Ensembl:ENSG00000147168 Genatlas:IL2RG HGNC:6010 IUPHAR:2303 OMIM:308380 Reactome:P31785 SwissProt:P31785 IL2RG interleukin 2 receptor subunit gamma 7q32.1 LCA11 sWSS2608 ClinVar:IMPDH1 Ensembl:ENSG00000106348 Genatlas:IMPDH1 HGNC:6052 IUPHAR:2624 OMIM:146690 Reactome:P20839 SwissProt:P20839 IMPDH1 inosine monophosphate dehydrogenase 1 13q34 growth inhibitor ING1 growth inhibitory protein ING1 inhibitor of growth 1 p24ING1c p33 p33ING1 p33ING1b p47 p47ING1a tumor suppressor ING1 ClinVar:ING1 Ensembl:ENSG00000153487 Genatlas:ING1 HGNC:6062 OMIM:601566 Reactome:Q9UK53 SwissProt:Q9UK53 ING1 inhibitor of growth family member 1 19p13.2 CD220 ClinVar:INSR Ensembl:ENSG00000171105 Genatlas:INSR HGNC:6091 IUPHAR:1800 OMIM:147670 Reactome:P06213 SwissProt:P06213 INSR insulin receptor 9q31.1 nephrocystin 2 ClinVar:INVS Ensembl:ENSG00000119509 Genatlas:INVS HGNC:17870 OMIM:243305 SwissProt:Q9Y283 INVS inversin 3q13.33 KIAA0036 NPHP5 SLSN5 nephrocystin-5 ClinVar:IQCB1 Ensembl:ENSG00000173226 Genatlas:IQCB1 HGNC:28949 OMIM:609237 Reactome:Q15051 SwissProt:Q15051 IQCB1 IQ motif containing B1 12q12 NY-REN-64 ClinVar:IRAK4 Ensembl:ENSG00000198001 Genatlas:IRAK4 HGNC:17967 IUPHAR:2045 OMIM:606883 Reactome:Q9NWZ3 SwissProt:Q9NWZ3 IRAK4 interleukin 1 receptor associated kinase 4 1q32.2 OFC6 VWS1 ClinVar:IRF6 Ensembl:ENSG00000117595 Genatlas:IRF6 HGNC:6121 OMIM:607199 Reactome:O14896 SwissProt:O14896 IRF6 interferon regulatory factor 6 17q21.31 CD41 CD41B GPIIb Integrin alpha-IIb PPP1R93 platelet glycoprotein IIb of IIb/IIIa complex protein phosphatase 1, regulatory subunit 93 ClinVar:ITGA2B Ensembl:ENSG00000005961 Genatlas:ITGA2B HGNC:6138 IUPHAR:2441 OMIM:607759 Reactome:P08514 SwissProt:P08514 ITGA2B integrin subunit alpha 2b 2q31.1 CD49f ITGA6A ITGA6B VLA-6 very late activation protein 6 ClinVar:ITGA6 Ensembl:ENSG00000091409 Genatlas:ITGA6 HGNC:6142 IUPHAR:2445 OMIM:147556 Reactome:P23229 SwissProt:P23229 ITGA6 integrin subunit alpha 6 21q22.3 LFA-1 MAC-1 complement component 3 receptor 3 and 4 subunit ClinVar:ITGB2 Ensembl:ENSG00000160255 Genatlas:ITGB2 HGNC:6155 IUPHAR:2456 OMIM:600065 Reactome:P05107 SwissProt:P05107 ITGB2 integrin subunit beta 2 Ataxia-diabetes-goiter-gonadal insufficiency syndrome Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989. Orphanet ICD-10:E31.8 ICD-11:5B0Y MONDO:0008874 MeSH:C537902 OMIM:210740 UMLS:C0342284 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1227 Bangstad syndrome ORPHA:1227 ICD-10:E31.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5B0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0008874 E (Exact mapping: the two concepts are equivalent) MeSH:C537902 E (Exact mapping: the two concepts are equivalent) OMIM:210740 E (Exact mapping: the two concepts are equivalent) UMLS:C0342284 E (Exact mapping: the two concepts are equivalent) 17q21.32 CD61 GPIIIa antigen CD61 platelet glycoprotein IIIa ClinVar:ITGB3 Ensembl:ENSG00000259207 Genatlas:ITGB3 HGNC:6156 IUPHAR:2457 OMIM:173470 Reactome:P05106 SwissProt:P05106 ITGB3 integrin subunit beta 3 17q25.1 CD104 ClinVar:ITGB4 Ensembl:ENSG00000132470 Genatlas:ITGB4 HGNC:6158 IUPHAR:2458 OMIM:147557 Reactome:P16144 SwissProt:P16144 ITGB4 integrin subunit beta 4 13q14.2 BRI BRI2 BRICD2B BRICHOS domain containing 2B E25B E3-16 ClinVar:ITM2B Ensembl:ENSG00000136156 Genatlas:ITM2B HGNC:6174 OMIM:603904 Reactome:Q9Y287 SwissProt:Q9Y287 ITM2B integral membrane protein 2B 15q15.1 ACAD2 IVDH ClinVar:IVD Ensembl:ENSG00000128928 Genatlas:IVD HGNC:6186 OMIM:607036 Reactome:P26440 SwissProt:P26440 IVD isovaleryl-CoA dehydrogenase 20p12.2 AHD AWS CD339 HJ1 ClinVar:JAG1 Ensembl:ENSG00000101384 Genatlas:JAG1 HGNC:6188 OMIM:601920 Reactome:P78504 SwissProt:P78504 JAG1 jagged canonical Notch ligand 1 9p24.1 JTK10 ClinVar:JAK2 Ensembl:ENSG00000096968 Genatlas:JAK2 HGNC:6192 IUPHAR:2048 OMIM:147796 Reactome:O60674 SwissProt:O60674 JAK2 Janus kinase 2 19p13.11 JAK-3 JAK3_HUMAN JAKL L-JAK LJAK leukocyte Janus kinase tyrosine-protein kinase JAK3 ClinVar:JAK3 Ensembl:ENSG00000105639 Genatlas:JAK3 HGNC:6193 IUPHAR:2049 OMIM:600173 Reactome:P52333 SwissProt:P52333 JAK3 Janus kinase 3 Xp11.22 DXS1272E XE169 ClinVar:KDM5C Ensembl:ENSG00000126012 Genatlas:KDM5C HGNC:11114 IUPHAR:2682 OMIM:314690 Reactome:P41229 SwissProt:P41229 KDM5C lysine demethylase 5C 16q24.2 CAGL237 HDL2 JP-3 JP3 junctophilin3 ClinVar:JPH3 Ensembl:ENSG00000154118 Genatlas:JPH3 HGNC:14203 OMIM:605268 SwissProt:Q8WXH2 JPH3 junctophilin 3 17q21.2 DP3 DPIII PDGB PG PKGB desmosomal protein 3 ClinVar:JUP Ensembl:ENSG00000173801 Genatlas:JUP HGNC:6207 OMIM:173325 Reactome:P14923 SwissProt:P14923 JUP junction plakoglobin Xp22.31 Adhesion molecule-like, X-linked KALIG-1 Kallmann syndrome interval gene 1 WAP four-disulfide core domain 19 WFDC19 anosmin-1 ClinVar:KAL1 Ensembl:ENSG00000011201 Genatlas:KAL1 HGNC:6211 OMIM:300836 Reactome:P23352 SwissProt:P23352 ANOS1 anosmin 1 12p13.32 HUK1 Kv1.1 MBK1 RBK1 ClinVar:KCNA1 Ensembl:ENSG00000111262 Genatlas:KCNA1 HGNC:6218 IUPHAR:538 OMIM:176260 Reactome:Q09470 SwissProt:Q09470 KCNA1 potassium voltage-gated channel subfamily A member 1 21q22.12 ISK IsK JLNS2 Jervell and Lange-Nielsen syndrome 2 LQT5 Long QT syndrome 5 minK ClinVar:KCNE1 Ensembl:ENSG00000180509 Genatlas:KCNE1 HGNC:6240 OMIM:176261 Reactome:P15382 SwissProt:P15382 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 Xq23 ClinVar:KCNE1L Ensembl:ENSG00000176076 Genatlas:KCNE1L HGNC:6241 OMIM:300328 Reactome:Q9UJ90 SwissProt:Q9UJ90 KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 21q22.11 LQT6 MiRP1 ClinVar:KCNE2 Ensembl:ENSG00000159197 Genatlas:KCNE2 HGNC:6242 OMIM:603796 Reactome:Q9Y6J6 SwissProt:Q9Y6J6 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 11q13.4 HOKPP MiRP2 ClinVar:KCNE3 Ensembl:ENSG00000175538 Genatlas:KCNE3 HGNC:6243 OMIM:604433 Reactome:Q9Y6H6 SwissProt:Q9Y6H6 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 7q36.1 HERG Kv11.1 erg1 human ether-a-go-go-related gene long QT syndrome type 2 ClinVar:KCNH2 Ensembl:ENSG00000055118 Genatlas:KCNH2 HGNC:6251 IUPHAR:572 OMIM:152427 Reactome:Q12809 SwissProt:Q12809 KCNH2 potassium voltage-gated channel subfamily H member 2 11q24.3 ATP-sensitive inward rectifier potassium channel 1 Kir1.1 ROMK1 ClinVar:KCNJ1 Ensembl:ENSG00000151704 Genatlas:KCNJ1 HGNC:6255 IUPHAR:429 OMIM:600359 Reactome:P48048 SwissProt:P48048 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 11p15.1 ATP-sensitive inward rectifier potassium channel 11 BIR Kir6.2 beta-cell inward rectifier ClinVar:KCNJ11 Ensembl:ENSG00000187486 Genatlas:KCNJ11 HGNC:6257 IUPHAR:442 OMIM:600937 Reactome:Q14654 SwissProt:Q14654 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 17q24.3 IRK1 Kir2.1 LQT7 ClinVar:KCNJ2 Ensembl:ENSG00000123700 Genatlas:KCNJ2 HGNC:6263 IUPHAR:430 OMIM:600681 Reactome:P63252 SwissProt:P63252 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 10q22.3 BK channel alpha subunit KCa1.1 big potassium channel alpha subunit mSLO1 maxiK channel ClinVar:KCNMA1 Ensembl:ENSG00000156113 Genatlas:KCNMA1 HGNC:6284 IUPHAR:380 OMIM:600150 Reactome:Q12791 SwissProt:Q12791 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965. Orphanet ICD-10:Q68.1 MONDO:0007185 MeSH:C566228 OMIM:109300 UMLS:C1862319 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1228 Historical entity Banki syndrome ORPHA:1228 ICD-10:Q68.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0007185 E (Exact mapping: the two concepts are equivalent) MeSH:C566228 E (Exact mapping: the two concepts are equivalent) OMIM:109300 E (Exact mapping: the two concepts are equivalent) UMLS:C1862319 E (Exact mapping: the two concepts are equivalent) 11p15.5-p15.4 JLNS1 Jervell and Lange-Nielsen syndrome 1 KCNA8 KVLQT1 Kv7.1 LQT1 ClinVar:KCNQ1 Ensembl:ENSG00000053918 Genatlas:KCNQ1 HGNC:6294 IUPHAR:560 OMIM:607542 Reactome:P51787 SwissProt:P51787 KCNQ1 potassium voltage-gated channel subfamily Q member 1 20q13.33 BFNC ENB1 HNSPC KCNA11 Kv7.2 ClinVar:KCNQ2 Ensembl:ENSG00000075043 Genatlas:KCNQ2 HGNC:6296 IUPHAR:561 OMIM:602235 Reactome:O43526 SwissProt:O43526 KCNQ2 potassium voltage-gated channel subfamily Q member 2 8q24.22 Kv7.3 ClinVar:KCNQ3 Ensembl:ENSG00000184156 Genatlas:KCNQ3 HGNC:6297 IUPHAR:562 OMIM:602232 Reactome:O43525 SwissProt:O43525 KCNQ3 potassium voltage-gated channel subfamily Q member 3 1p34.2 Kv7.4 ClinVar:KCNQ4 Ensembl:ENSG00000117013 Genatlas:KCNQ4 HGNC:6298 IUPHAR:563 OMIM:603537 Reactome:P56696 SwissProt:P56696 KCNQ4 potassium voltage-gated channel subfamily Q member 4 12q21.33 SLRR2B keratocan proteoglycan ClinVar:KERA Ensembl:ENSG00000139330 Genatlas:KERA HGNC:6309 OMIM:603288 Reactome:O60938 SwissProt:O60938 KERA keratocan 2p23.3 fructokinase ClinVar:KHK Ensembl:ENSG00000138030 Genatlas:KHK HGNC:6315 IUPHAR:3236 OMIM:614058 Reactome:P50053 SwissProt:P50053 KHK ketohexokinase 8q24.13 strumpellin ClinVar:KIAA0196 Ensembl:ENSG00000164961 Genatlas:KIAA0196 HGNC:28984 OMIM:610657 SwissProt:Q12768 WASHC5 WASH complex subunit 5 10q22.1 DKFZP586B0923 KBP TTC20 kinesin binding protein ClinVar:KIF1BP Ensembl:ENSG00000198954 Genatlas:KIF1BP HGNC:23419 OMIM:609367 SwissProt:Q96EK5 KIFBP kinesin family binding protein Xq13.3 KIDLIA MRX98 XLMR-related protein, neurite extension XPN ClinVar:KIAA2022 Ensembl:ENSG00000050030 Genatlas:KIAA2022 HGNC:29433 OMIM:300524 SwissProt:Q5QGS0 NEXMIF neurite extension and migration factor 1p36.22 Charcot-Marie-Tooth neuropathy type II HMSNII KIAA0591 KLP ClinVar:KIF1B Ensembl:ENSG00000054523 Genatlas:KIF1B HGNC:16636 OMIM:605995 Reactome:O60333 SwissProt:O60333 KIF1B kinesin family member 1B 12q12 FLJ20052 ClinVar:KIF21A Ensembl:ENSG00000139116 Genatlas:KIF21A HGNC:19349 OMIM:608283 Reactome:Q7Z4S6 SwissProt:Q7Z4S6 KIF21A kinesin family member 21A 12q13.3 D12S1889 MY050 NKHC neuron-specific kinesin heavy chain ClinVar:KIF5A Ensembl:ENSG00000155980 Genatlas:KIF5A HGNC:6323 OMIM:602821 Reactome:Q12840 SwissProt:Q12840 KIF5A kinesin family member 5A 19p13.3 AXOR12 HOT7T175 ClinVar:KISS1R Ensembl:ENSG00000116014 Genatlas:KISS1R HGNC:4510 IUPHAR:266 OMIM:604161 Reactome:Q969F8 SwissProt:Q969F8 KISS1R KISS1 receptor 4q12 C-Kit CD117 SCFR mast/stem cell growth factor receptor Kit ClinVar:KIT Ensembl:ENSG00000157404 Genatlas:KIT HGNC:6342 IUPHAR:1805 OMIM:164920 Reactome:P10721 SwissProt:P10721 KIT KIT proto-oncogene, receptor tyrosine kinase 2p25.1 FKLF MODY7 Tieg3 ClinVar:KLF11 Ensembl:ENSG00000172059 Genatlas:KLF11 HGNC:11811 OMIM:603301 SwissProt:O14901 KLF11 KLF transcription factor 11 4q35.2 Fletcher factor ClinVar:KLKB1 Ensembl:ENSG00000164344 Genatlas:KLKB1 HGNC:6371 IUPHAR:2379 OMIM:229000 Reactome:P03952 SwissProt:P03952 KLKB1 kallikrein B1 3q27.3 BK HMWK alpha-2-thiol proteinase inhibitor bradykinin high-molecular-weight kininogen ClinVar:KNG1 Ensembl:ENSG00000113889 Genatlas:KNG1 HGNC:6383 OMIM:612358 Reactome:P01042 SwissProt:P01042 KNG1 kininogen 1 12p12.1 K-Ras4B KRAS1 ClinVar:KRAS Ensembl:ENSG00000133703 Genatlas:KRAS HGNC:6407 IUPHAR:2824 OMIM:190070 Reactome:P01116 SwissProt:P01116 KRAS KRAS proto-oncogene, GTPase 7q21.2 CAM Krev interaction trapped 1 ClinVar:KRIT1 Ensembl:ENSG00000001631 Genatlas:KRIT1 HGNC:1573 OMIM:604214 SwissProt:O00522 KRIT1 KRIT1 ankyrin repeat containing 12q13.13 KRT1A ClinVar:KRT1 Ensembl:ENSG00000167768 Genatlas:KRT1 HGNC:6412 OMIM:139350 Reactome:P04264 SwissProt:P04264 KRT1 keratin 1 17q21.2 CK10 K10 cytokeratin 10 epidermolytic hyperkeratosis ClinVar:KRT10 Ensembl:ENSG00000186395 Genatlas:KRT10 HGNC:6413 OMIM:148080 Reactome:P13645 SwissProt:P13645 KRT10 keratin 10 17q21.2 K12 Meesmann corneal dystrophy ClinVar:KRT12 Ensembl:ENSG00000187242 Genatlas:KRT12 HGNC:6414 OMIM:601687 Reactome:Q99456 SwissProt:Q99456 KRT12 keratin 12 17q21.2 epidermolysis bullosa simplex, Dowling-Meara, Koebner ClinVar:KRT14 Ensembl:ENSG00000186847 Genatlas:KRT14 HGNC:6416 OMIM:148066 Reactome:P02533 SwissProt:P02533 KRT14 keratin 14 BLC-PMG Baraitser-Brett-Piesowicz syndrome Baraitser-Reardon syndrome Bilateral band-like calcification with polymicrogyria Microcephaly-intracranial calcification-intellectual disability syndrome Pseudo-TORCH syndrome Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. Orphanet ICD-10:Q87.8 ICD-11:LD20.2 MONDO:0009626 MeSH:C537905 OMIM:251290 UMLS:C2931662 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1229 Congenital intrauterine infection-like syndrome ORPHA:1229 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0009626 E (Exact mapping: the two concepts are equivalent) MeSH:C537905 E (Exact mapping: the two concepts are equivalent) OMIM:251290 E (Exact mapping: the two concepts are equivalent) UMLS:C2931662 E (Exact mapping: the two concepts are equivalent) 17q21.2 NEPPK focal non-epidermolytic palmoplantar keratoderma ClinVar:KRT16 Ensembl:ENSG00000186832 Genatlas:KRT16 HGNC:6423 OMIM:148067 Reactome:P08779 SwissProt:P08779 KRT16 keratin 16 17q21.2 ClinVar:KRT17 Ensembl:ENSG00000128422 Genatlas:KRT17 HGNC:6427 OMIM:148069 Reactome:Q04695 SwissProt:Q04695 KRT17 keratin 17 12q13.13 KRTE epidermal ichthyosis bullosa of Siemens ClinVar:KRT2 Ensembl:ENSG00000172867 Genatlas:KRT2 HGNC:6439 OMIM:600194 Reactome:P35908 SwissProt:P35908 KRT2 keratin 2 12q13.13 CK3 K3 cytokeratin 3 keratin, type II cytoskeletal 3 ClinVar:KRT3 Ensembl:ENSG00000186442 Genatlas:KRT3 HGNC:6440 OMIM:148043 Reactome:P12035 SwissProt:P12035 KRT3 keratin 3 12q13.13 CK-5 KRT5A ClinVar:KRT5 Ensembl:ENSG00000186081 Genatlas:KRT5 HGNC:6442 OMIM:148040 Reactome:P13647 SwissProt:P13647 KRT5 keratin 5 12q13.13 CK6C CK6D K6C K6D ClinVar:KRT6A Ensembl:ENSG00000205420 Genatlas:KRT6A HGNC:6443 OMIM:148041 Reactome:P02538 SwissProt:P02538 KRT6A keratin 6A 12q13.13 ClinVar:KRT6B Ensembl:ENSG00000185479 Genatlas:KRT6B HGNC:6444 OMIM:148042 Reactome:P04259 SwissProt:P04259 KRT6B keratin 6B 12q13.13 Hb-1 hard keratin type II 1 ClinVar:KRT81 Ensembl:ENSG00000205426 Genatlas:KRT81 HGNC:6458 OMIM:602153 Reactome:Q14533 SwissProt:Q14533 KRT81 keratin 81 12q13.13 Hb-3 hard keratin type II ClinVar:KRT83 Ensembl:ENSG00000170523 Genatlas:KRT83 HGNC:6460 OMIM:602765 Reactome:P78385 SwissProt:P78385 KRT83 keratin 83 12q13.13 Hb-5 hard keratin type II ClinVar:KRT85 Ensembl:ENSG00000135443 Genatlas:KRT85 HGNC:6462 OMIM:602767 Reactome:P78386 SwissProt:P78386 KRT85 keratin 85 12q13 Hb6 MNX hard keratin type II 6 ClinVar:KRT86 Ensembl:ENSG00000170442 Genatlas:KRT86 HGNC:6463 OMIM:601928 Reactome:O43790 SwissProt:O43790 KRT86 keratin 86 17q21.2 CK-9 EPPK K9 cytokeratin 9 epidermolytic palmoplantar keratoderma type I cytoskeletal 9 ClinVar:KRT9 Ensembl:ENSG00000171403 Genatlas:KRT9 HGNC:6447 OMIM:607606 Reactome:P35527 SwissProt:P35527 KRT9 keratin 9 Xq28 CAML1 CD171 NCAM-L1 neural cell adhesion molecule L1 ClinVar:L1CAM Ensembl:ENSG00000198910 Genatlas:L1CAM HGNC:6470 OMIM:308840 Reactome:P32004 SwissProt:P32004 L1CAM L1 cell adhesion molecule 14q21.3 2-hydroxyglutarate dehydrogenase FLJ12618 ClinVar:L2HGDH Ensembl:ENSG00000087299 Genatlas:L2HGDH HGNC:20499 OMIM:609584 Reactome:Q9H9P8 SwissProt:Q9H9P8 L2HGDH L-2-hydroxyglutarate dehydrogenase 6q22.33 congenital muscular dystrophy merosin ClinVar:LAMA2 Ensembl:ENSG00000196569 Genatlas:LAMA2 HGNC:6482 OMIM:156225 Reactome:P24043 SwissProt:P24043 LAMA2 laminin subunit alpha 2 18q11.2 BM600-150kDa epiligrin kalinin-165kDa nicein-150kDa ClinVar:LAMA3 Ensembl:ENSG00000053747 Genatlas:LAMA3 HGNC:6483 OMIM:600805 Reactome:Q16787 SwissProt:Q16787 LAMA3 laminin subunit alpha 3 3p21.31 NPHS5 laminin S ClinVar:LAMB2 Ensembl:ENSG00000172037 Genatlas:LAMB2 HGNC:6487 OMIM:150325 Reactome:P55268 SwissProt:P55268 LAMB2 laminin subunit beta 2 1q32.2 BM600-125kDa kalinin-140kDa nicein-125kDa ClinVar:LAMB3 Ensembl:ENSG00000196878 Genatlas:LAMB3 HGNC:6490 OMIM:150310 Reactome:Q13751 SwissProt:Q13751 LAMB3 laminin subunit beta 3 1q25.3 BM600-100kDa kalinin-105kDa nicein-100kDa ClinVar:LAMC2 Ensembl:ENSG00000058085 Genatlas:LAMC2 HGNC:6493 OMIM:150292 Reactome:Q13753 SwissProt:Q13753 LAMC2 laminin subunit gamma 2 Xq24 CD107b ClinVar:LAMP2 Ensembl:ENSG00000005893 Genatlas:LAMP2 HGNC:6501 OMIM:309060 Reactome:P13473 SwissProt:P13473 LAMP2 lysosomal associated membrane protein 2 22q12.3 KIAA0609 like-acetylglucosaminyltransferase ClinVar:LARGE Ensembl:ENSG00000133424 Genatlas:LARGE HGNC:6511 OMIM:603590 Reactome:O95461 SwissProt:O95461 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 Deafness-pili torti-hypogonadism syndrome Hearing loss-pili torti-hypogonadism syndrome ICD-10:E88.8 ICD-11:EC21.1 MONDO:0009872 MeSH:C537633 OMIM:262000 UMLS:C0266006 Autosomal dominant Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 33.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=123 Björnstad syndrome ORPHA:123 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:EC21.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0009872 E (Exact mapping: the two concepts are equivalent) MeSH:C537633 E (Exact mapping: the two concepts are equivalent) OMIM:262000 E (Exact mapping: the two concepts are equivalent) UMLS:C0266006 E (Exact mapping: the two concepts are equivalent) 1q42.12 DHCR14B TDRD18 tudor domain containing 18 ClinVar:LBR Ensembl:ENSG00000143815 Genatlas:LBR HGNC:6518 OMIM:600024 Reactome:Q14739 SwissProt:Q14739 LBR lamin B receptor 16q22.1 phosphatidylcholine--sterol O-acyltransferase ClinVar:LCAT Ensembl:ENSG00000213398 Genatlas:LCAT HGNC:6522 OMIM:606967 Reactome:P04180 SwissProt:P04180 LCAT lecithin-cholesterol acyltransferase 2q21.3 ClinVar:LCT Ensembl:ENSG00000115850 Genatlas:LCT HGNC:6530 OMIM:603202 Reactome:P09848 SwissProt:P09848 LCT lactase 10q23.2 KIAA0613 PDLIM6 Z-band alternatively spliced PDZ motif protein ZASP cypher oracle ClinVar:LDB3 Ensembl:ENSG00000122367 Genatlas:LDB3 HGNC:15710 OMIM:605906 SwissProt:O75112 LDB3 LIM domain binding 3 11p15.1 ClinVar:LDHA Ensembl:ENSG00000134333 Genatlas:LDHA HGNC:6535 OMIM:150000 Reactome:P00338 SwissProt:P00338 LDHA lactate dehydrogenase A 12p12.1 ClinVar:LDHB Ensembl:ENSG00000111716 Genatlas:LDHB HGNC:6541 OMIM:150100 Reactome:P07195 SwissProt:P07195 LDHB lactate dehydrogenase B 19p13.2 LDLCQ2 familial hypercholesterolemia ClinVar:LDLR Ensembl:ENSG00000130164 Genatlas:LDLR HGNC:6547 OMIM:606945 Reactome:P01130 SwissProt:P01130 LDLR low density lipoprotein receptor 1p36.11 ARH ARH2 DKFZp586D0624 FHCB1 FHCB2 MGC34705 autosomal recessive hypercholesterolemia ClinVar:LDLRAP1 Ensembl:ENSG00000157978 Genatlas:LDLRAP1 HGNC:18640 OMIM:605747 Reactome:Q5SW96 SwissProt:Q5SW96 LDLRAP1 low density lipoprotein receptor adaptor protein 1 12q14.3 MAN antigen 1 MAN1 inner nuclear membrane protein Man1 ClinVar:LEMD3 Ensembl:ENSG00000174106 Genatlas:LEMD3 HGNC:28887 OMIM:607844 Reactome:Q9Y2U8 SwissProt:Q9Y2U8 LEMD3 LEM domain containing 3 7q32.1 ClinVar:LEP Ensembl:ENSG00000174697 Genatlas:LEP HGNC:6553 OMIM:164160 Reactome:P41159 SwissProt:P41159 LEP leptin 1p31.3 CD295 OBR ClinVar:LEPR Ensembl:ENSG00000116678 Genatlas:LEPR HGNC:6554 IUPHAR:1712 OMIM:601007 Reactome:P48357 SwissProt:P48357 LEPR leptin receptor 10q23.33 EPITEMPIN ETL1 Epitempin-1 IB1099 ClinVar:LGI1 Ensembl:ENSG00000108231 Genatlas:LGI1 HGNC:6572 OMIM:604619 Reactome:O95970 SwissProt:O95970 LGI1 leucine rich glioma inactivated 1 19q13.33 CGB4 LSH-B hLHB interstitial cell stimulating hormone, beta chain luteinizing hormone beta subunit lutropin, beta chain ClinVar:LHB Ensembl:ENSG00000104826 Genatlas:LHB HGNC:6584 OMIM:152780 Reactome:P01229 SwissProt:P01229 LHB luteinizing hormone subunit beta 2p16.3 LCGR LGR2 LHR ULG5 luteinizing hormone receptor ClinVar:LHCGR Ensembl:ENSG00000138039 Genatlas:LHCGR HGNC:6585 IUPHAR:254 OMIM:152790 Reactome:P22888 SwissProt:P22888 LHCGR luteinizing hormone/choriogonadotropin receptor 9q34.3 ClinVar:LHX3 Ensembl:ENSG00000107187 Genatlas:LHX3 HGNC:6595 OMIM:600577 SwissProt:Q9UBR4 LHX3 LIM homeobox 3 5p13.1 CD118 ClinVar:LIFR Ensembl:ENSG00000113594 Genatlas:LIFR HGNC:6597 IUPHAR:1713 OMIM:151443 Reactome:P42702 SwissProt:P42702 LIFR LIF receptor subunit alpha 13q33.3 DNA joinase DNA ligase IV DNA repair enzyme polydeoxyribonucleotide synthase [ATP] 4 polynucleotide ligase sealase ClinVar:LIG4 Ensembl:ENSG00000174405 Genatlas:LIG4 HGNC:6601 OMIM:601837 Reactome:P49917 SwissProt:P49917 LIG4 DNA ligase 4 7q11.23 LIMK ClinVar:LIMK1 Ensembl:ENSG00000106683 Genatlas:LIMK1 HGNC:6613 IUPHAR:2054 OMIM:601329 Reactome:P53667 SwissProt:P53667 LIMK1 LIM domain kinase 1 10q23.31 CESD LAL Wolman disease lysosomal acid lipase sterol esterase ClinVar:LIPA Ensembl:ENSG00000107798 Genatlas:LIPA HGNC:6617 OMIM:613497 Reactome:P38571 SwissProt:P38571 LIPA lipase A, lysosomal acid type 16p13.13 FLJ38636 PIG7 SIMPLE TP53I7 small integral membrane protein of the late endosome ClinVar:LITAF Ensembl:ENSG00000189067 Genatlas:LITAF HGNC:16841 OMIM:603795 Reactome:Q99732 SwissProt:Q99732 LITAF lipopolysaccharide induced TNF factor 18q21.32 ERGIC-53 ERGIC53 FMFD1 MCFD1 MR60 endoplasmic reticulum-golgi intermediate compartment protein 53 gp58 ClinVar:LMAN1 Ensembl:ENSG00000074695 Genatlas:LMAN1 HGNC:6631 OMIM:601567 Reactome:P49257 SwissProt:P49257 LMAN1 lectin, mannose binding 1 7q36.3 ACHP FLJ11665 ZRS ClinVar:LMBR1 Ensembl:ENSG00000105983 Genatlas:LMBR1 HGNC:13243 OMIM:605522 SwissProt:Q8WVP7 LMBR1 limb development membrane protein 1 1q22 HGPS MADA mandibuloacral dysplasia type A progerin ClinVar:LMNA Ensembl:ENSG00000160789 Genatlas:LMNA HGNC:6636 OMIM:150330 Reactome:P02545 SwissProt:P02545 LMNA lamin A/C 5q23.2 ClinVar:LMNB1 Ensembl:ENSG00000113368 Genatlas:LMNB1 HGNC:6637 OMIM:150340 Reactome:P20700 SwissProt:P20700 LMNB1 lamin B1 Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia. Orphanet ICD-10:Q87.0 ICD-11:LD27.3 MONDO:0008853 MeSH:C537908 OMIM:209885 UMLS:C1319466 Autosomal dominant Autosomal recessive Not applicable Neonatal Worldwide AND has_cases/families_value : 16.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1231 Barber-Say syndrome ORPHA:1231 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008853 E (Exact mapping: the two concepts are equivalent) MeSH:C537908 E (Exact mapping: the two concepts are equivalent) OMIM:209885 E (Exact mapping: the two concepts are equivalent) UMLS:C1319466 E (Exact mapping: the two concepts are equivalent) 9q33.3 ClinVar:LMX1B Ensembl:ENSG00000136944 Genatlas:LMX1B HGNC:6654 OMIM:602575 SwissProt:O60663 LMX1B LIM homeobox transcription factor 1 beta 1q21.3 ClinVar:LOR Ensembl:ENSG00000203782 Genatlas:LOR HGNC:6663 OMIM:152445 Reactome:P23490 SwissProt:P23490 LORICRIN loricrin cornified envelope precursor protein 18p11.31 KIAA0249 Phosphatidate phosphatase LPIN2 ClinVar:LPIN2 Ensembl:ENSG00000101577 Genatlas:LPIN2 HGNC:14450 IUPHAR:1436 OMIM:605519 Reactome:Q92539 SwissProt:Q92539 LPIN2 lipin 2 8p21.3 ClinVar:LPL Ensembl:ENSG00000175445 Genatlas:LPL HGNC:6677 OMIM:609708 Reactome:P06858 SwissProt:P06858 LPL lipoprotein lipase 11q13.2 BMND1 EVR4 HBM LR3 OPS OPTA1 VBCH2 ClinVar:LRP5 Ensembl:ENSG00000162337 Genatlas:LRP5 HGNC:6697 OMIM:603506 Reactome:O75197 SwissProt:O75197 LRP5 LDL receptor related protein 5 2p21 GP130 LRP130 ClinVar:LRPPRC Ensembl:ENSG00000138095 Genatlas:LRPPRC HGNC:15714 OMIM:607544 Reactome:P42704 SwissProt:P42704 LRPPRC leucine rich pentatricopeptide repeat containing 9q34.11 FLJ10337 KIAA1437 SWELL1 ClinVar:LRRC8A Ensembl:ENSG00000136802 Genatlas:LRRC8A HGNC:19027 OMIM:608360 Reactome:Q8IWT6 SwissProt:Q8IWT6 LRRC8A leucine rich repeat containing 8 VRAC subunit A 4q24 beta-mannosidase A ClinVar:MANBA Ensembl:ENSG00000109323 Genatlas:MANBA HGNC:6831 OMIM:609489 Reactome:O00462 SwissProt:O00462 MANBA mannosidase beta Xp11.3 ClinVar:MAOA Ensembl:ENSG00000189221 Genatlas:MAOA HGNC:6833 IUPHAR:2489 OMIM:309850 Reactome:P21397 SwissProt:P21397 MAOA monoamine oxidase A 15q22.31 MAP kinase kinase 1 MAPK/ERK kinase 1 MAPKK1 MEK1 MKK1 dual specificity mitogen-activated protein kinase kinase 1 ClinVar:MAP2K1 Ensembl:ENSG00000169032 Genatlas:MAP2K1 HGNC:6840 IUPHAR:2062 OMIM:176872 Reactome:Q02750 SwissProt:Q02750 MAP2K1 mitogen-activated protein kinase kinase 1 19p13.3 MAP kinase kinase 2 MEK2 MKK2 ClinVar:MAP2K2 Ensembl:ENSG00000126934 Genatlas:MAP2K2 HGNC:6842 IUPHAR:2063 OMIM:601263 Reactome:P36507 SwissProt:P36507 MAP2K2 mitogen-activated protein kinase kinase 2 17q21.31 FLJ31424 FTDP-17 G protein beta1/gamma2 subunit-interacting factor 1 MGC138549 MSTD MTBT1 MTBT2 PPND PPP1R103 TAU Tau-PHF6 Tau-derived paired helical filament hexapeptide microtubule-associated protein tau, isoform 4 protein phosphatase 1, regulatory subunit 103 tau tau-40 ClinVar:MAPT Ensembl:ENSG00000186868 Genatlas:MAPT HGNC:6893 OMIM:157140 Reactome:P10636 SwissProt:P10636 MAPT microtubule associated protein tau 10p12.1 FLJ14813 Gwl THC2 greatwall kinase homolog ClinVar:MASTL Ensembl:ENSG00000120539 Genatlas:MASTL HGNC:19042 IUPHAR:1514 OMIM:608221 Reactome:Q96GX5 SwissProt:Q96GX5 MASTL microtubule associated serine/threonine kinase like 2p24.1 EDM5 HOA ClinVar:MATN3 Ensembl:ENSG00000132031 Genatlas:MATN3 HGNC:6909 OMIM:602109 Reactome:O15232 SwissProt:O15232 MATN3 matrilin 3 18p11.21 ACTHR adrenocorticotropic hormone receptor ClinVar:MC2R Ensembl:ENSG00000185231 Genatlas:MC2R HGNC:6930 IUPHAR:283 OMIM:607397 Reactome:Q01718 SwissProt:Q01718 MC2R melanocortin 2 receptor 3q27.1 3-methylcrotonyl-CoA carboxylase biotin containing subunit MCCA MCCCa MCCCα methylcrotonoyl-CoA carboxylase alpha ClinVar:MCCC1 Ensembl:ENSG00000078070 Genatlas:MCCC1 HGNC:6936 OMIM:609010 Reactome:Q96RQ3 SwissProt:Q96RQ3 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 5q13.2 3-methylcrotonyl-CoA carboxylase non-biotin containing subunit MCCB MCCCß methylcrotonoyl-CoA carboxylase beta ClinVar:MCCC2 Ensembl:ENSG00000131844 Genatlas:MCCC2 HGNC:6937 OMIM:609014 Reactome:Q9HCC0 SwissProt:Q9HCC0 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 2p21 F5F8D LMAN1IP SDNSF ClinVar:MCFD2 Ensembl:ENSG00000180398 Genatlas:MCFD2 HGNC:18451 OMIM:607788 Reactome:Q8NI22 SwissProt:Q8NI22 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit 19p13.2 ML4 MLIV MST080 MSTP080 TRPM-L1 TRPML1 mucolipidosis type IV transient receptor potential cation channel mucolipin subfamily member 1 transient receptor potential mucolipin 1 ClinVar:MCOLN1 Ensembl:ENSG00000090674 Genatlas:MCOLN1 HGNC:13356 IUPHAR:501 OMIM:605248 Reactome:Q9GZU1 SwissProt:Q9GZU1 MCOLN1 mucolipin TRP cation channel 1 8p23.1 BRCT-repeat inhibitor of TERT expression 1 BRIT1 FLJ12847 ClinVar:MCPH1 Ensembl:ENSG00000147316 Genatlas:MCPH1 HGNC:6954 OMIM:607117 Reactome:Q8NEM0 SwissProt:Q8NEM0 MCPH1 microcephalin 1 Xq28 ClinVar:MECP2 Ensembl:ENSG00000169057 Genatlas:MECP2 HGNC:6990 OMIM:300005 Reactome:P51608 SwissProt:P51608 MECP2 methyl-CpG binding protein 2 16p13.3 FMF TRIM20 marenostrin ClinVar:MEFV Ensembl:ENSG00000103313 Genatlas:MEFV HGNC:6998 OMIM:608107 Reactome:O15553 SwissProt:O15553 MEFV MEFV innate immunity regulator, pyrin 11q13 menin ClinVar:MEN1 Ensembl:ENSG00000133895 Genatlas:MEN1 HGNC:7010 OMIM:613733 Reactome:O00255 SwissProt:O00255 MEN1 menin 1 2q13 RP38 Tyro12 c-Eyk mer ClinVar:MERTK Ensembl:ENSG00000153208 Genatlas:MERTK HGNC:7027 IUPHAR:1837 OMIM:604705 Reactome:Q12866 SwissProt:Q12866 MERTK MER proto-oncogene, tyrosine kinase This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. ICD-10:K22.7 NON RARE IN EUROPE: Barrett esophagus ORPHA:1232 ICD-10:K22.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). 7q31.2 DFNB97 HGFR RCCP2 hepatocyte growth factor receptor ClinVar:MET Ensembl:ENSG00000105976 Genatlas:MET HGNC:7029 IUPHAR:1815 OMIM:164860 Reactome:P08581 SwissProt:P08581 MET MET proto-oncogene, receptor tyrosine kinase 1p36.22 CMT2A2 CPRP1 KIAA0214 MARF ClinVar:MFN2 Ensembl:ENSG00000116688 Genatlas:MFN2 HGNC:16877 IUPHAR:3131 OMIM:608507 Reactome:O95140 SwissProt:O95140 MFN2 mitofusin 2 11q23.3 C1QTNF5 C1q and TNF related 5 FLJ30570 NNO2 membrane-type frizzled-related protein rd6 ClinVar:MFRP Ensembl:ENSG00000235718 Genatlas:MFRP HGNC:18121 OMIM:606227 SwissProt:Q9BY79 MFRP membrane frizzled-related protein 14q21.3 GNT-II ClinVar:MGAT2 Ensembl:ENSG00000168282 Genatlas:MGAT2 HGNC:7045 OMIM:602616 Reactome:Q10469 SwissProt:Q10469 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 12p12.3 ClinVar:MGP Ensembl:ENSG00000111341 Genatlas:MGP HGNC:7060 OMIM:154870 SwissProt:P08493 MGP matrix Gla protein Xp22.2 FXY OS Opitz/BBB syndrome RNF59 TRIM18 ClinVar:MID1 Ensembl:ENSG00000101871 Genatlas:MID1 HGNC:7095 OMIM:300552 Reactome:O15344 SwissProt:O15344 MID1 midline 1 22q11.23 GIF glycosylation-inhibiting factor phenylpyruvate tautomerase ClinVar:MIF Ensembl:ENSG00000240972 Genatlas:MIF HGNC:7097 OMIM:153620 Reactome:P14174 SwissProt:P14174 MIF macrophage migration inhibitory factor 12q13.3 AQP0 LIM1 MP26 aquaporin 0 ClinVar:MIP Ensembl:ENSG00000135517 Genatlas:MIP HGNC:7103 IUPHAR:687 OMIM:154050 Reactome:P30301 SwissProt:P30301 MIP major intrinsic protein of lens fiber 3p13 MI bHLHe32 homolog of mouse microphthalmia ClinVar:MITF Ensembl:ENSG00000187098 Genatlas:MITF HGNC:7105 OMIM:156845 Reactome:O75030 SwissProt:O75030 MITF melanocyte inducing transcription factor 20p12.2 ClinVar:MKKS Ensembl:ENSG00000125863 Genatlas:MKKS HGNC:7108 OMIM:604896 Reactome:Q9NPJ1 SwissProt:Q9NPJ1 MKKS MKKS centrosomal shuttling protein 17q22 BBS13 FLJ20345 POC12 POC12 centriolar protein homolog (Chlamydomonas) ClinVar:MKS1 Ensembl:ENSG00000011143 Genatlas:MKS1 HGNC:7121 OMIM:609883 Reactome:Q9NXB0 SwissProt:Q9NXB0 MKS1 MKS transition zone complex subunit 1 22q13.33 KIAA0027 LVM MLC VL ClinVar:MLC1 Ensembl:ENSG00000100427 Genatlas:MLC1 HGNC:17082 OMIM:605908 SwissProt:Q15049 MLC1 modulator of VRAC current 1 3p22.2 FCC2 HNPCC HNPCC2 MLH-1 ClinVar:MLH1 Ensembl:ENSG00000076242 Genatlas:MLH1 HGNC:7127 OMIM:120436 Reactome:P40692 SwissProt:P40692 MLH1 mutL homolog 1 11q23.3 ALL-1 ALL1 CXXC7 HRX HTRX HTRX1 Histone-lysine N-methyltransferase 2A MLL1 MLL1A TRX1 ClinVar:KMT2A Ensembl:ENSG00000118058 Genatlas:KMT2A HGNC:7132 IUPHAR:2688 OMIM:159555 Reactome:Q03164 SwissProt:Q03164 KMT2A lysine methyltransferase 2A 2q37.3 SLAC2-A Slac-2a exophilin-3 l(1)-3Rk l1Rk3 ln synaptotagmin-like protein homologue lacking C2 domains-a ClinVar:MLPH Ensembl:ENSG00000115648 Genatlas:MLPH HGNC:29643 OMIM:606526 SwissProt:Q9BV36 MLPH melanophilin 16q23.3 MCD hMCD ClinVar:MLYCD Ensembl:ENSG00000103150 Genatlas:MLYCD HGNC:7150 IUPHAR:1275 OMIM:606761 Reactome:O95822 SwissProt:O95822 MLYCD malonyl-CoA decarboxylase 4q31.21 cblA ClinVar:MMAA Ensembl:ENSG00000151611 Genatlas:MMAA HGNC:18871 OMIM:607481 Reactome:Q8IVH4 SwissProt:Q8IVH4 MMAA metabolism of cobalamin associated A 12q24.11 ATP:cob(I)alamin adenosyltransferase CFAP23 cblB cilia and flagella associated protein 23 ClinVar:MMAB Ensembl:ENSG00000139428 Genatlas:MMAB HGNC:19331 OMIM:607568 Reactome:Q96EY8 SwissProt:Q96EY8 MMAB metabolism of cobalamin associated B 12q12 DKFZp434H2111 FLJ45829 RIPK7 ROCO2 dardarin ClinVar:LRRK2 Ensembl:ENSG00000188906 Genatlas:LRRK2 HGNC:18618 IUPHAR:2059 OMIM:609007 Reactome:Q5S007 SwissProt:Q5S007 LRRK2 leucine rich repeat kinase 2 1q42.3 CHS Mauve ClinVar:LYST Ensembl:ENSG00000143669 Genatlas:LYST HGNC:1968 OMIM:606897 SwissProt:Q99698 LYST lysosomal trafficking regulator 12q15 renal amyloidosis ClinVar:LYZ Ensembl:ENSG00000090382 Genatlas:LYZ HGNC:6740 OMIM:153450 Reactome:P61626 SwissProt:P61626 LYZ lysozyme 15q11.2 nM15 ClinVar:MAGEL2 Ensembl:ENSG00000254585 Genatlas:MAGEL2 HGNC:6814 OMIM:605283 Reactome:Q9UJ55 SwissProt:Q9UJ55 MAGEL2 MAGE family member L2 19p13.13 LAMAN lysosomal alpha-mannosidase ClinVar:MAN2B1 Ensembl:ENSG00000104774 Genatlas:MAN2B1 HGNC:6826 OMIM:609458 Reactome:O00754 SwissProt:O00754 MAN2B1 mannosidase alpha class 2B member 1 3q21.3 MGC14452 NPD002 ClinVar:ACAD9 Ensembl:ENSG00000177646 Genatlas:ACAD9 HGNC:21497 OMIM:611103 Reactome:Q9H845 SwissProt:Q9H845 ACAD9 acyl-CoA dehydrogenase family member 9 11q25 isobutyryl-CoA dehydrogenase ClinVar:ACAD8 Ensembl:ENSG00000151498 Genatlas:ACAD8 HGNC:87 OMIM:604773 Reactome:Q9UKU7 SwissProt:Q9UKU7 ACAD8 acyl-CoA dehydrogenase family member 8 11p15.5 ASM ASM1 D11S813E GMRSP LINC00008 MIR675 host gene MIR675HG NCRNA00008 adult skeletal muscle glucose metabolism regulatory protein long intergenic non-protein coding RNA 8 non-protein coding RNA 8 ClinVar:H19 Ensembl:ENSG00000130600 Genatlas:H19 HGNC:4713 OMIM:103280 SwissProt: H19 H19 imprinted maternally expressed transcript 2q35 ClinVar:WNT10A Ensembl:ENSG00000135925 Genatlas:WNT10A HGNC:13829 OMIM:606268 Reactome:Q9GZT5 SwissProt:Q9GZT5 WNT10A Wnt family member 10A 7p15.2 ClinVar:HOXA11 Ensembl:ENSG00000005073 Genatlas:HOXA11 HGNC:5101 OMIM:142958 SwissProt:P31270 HOXA11 homeobox A11 16q22.1 DOR1 FLJ22315 ClinVar:COG8 Ensembl:ENSG00000213380 Genatlas:COG8 HGNC:18623 OMIM:606979 Reactome:Q96MW5 SwissProt:Q96MW5 COG8 component of oligomeric golgi complex 8 22q12.1 ClinVar:CRYBB1 Ensembl:ENSG00000100122 Genatlas:CRYBB1 HGNC:2397 OMIM:600929 Reactome:P53674 SwissProt:P53674 CRYBB1 crystallin beta B1 9q34.3 ClinVar:NOTCH1 Ensembl:ENSG00000148400 Genatlas:NOTCH1 HGNC:7881 IUPHAR:2861 OMIM:190198 Reactome:P46531 SwissProt:P46531 NOTCH1 notch receptor 1 7p15.2 ClinVar:HOXA1 Ensembl:ENSG00000105991 Genatlas:HOXA1 HGNC:5099 OMIM:142955 Reactome:P49639 SwissProt:P49639 HOXA1 homeobox A1 6p21.32 D6S114E PSF1 RING4 ClinVar:TAP1 Ensembl:ENSG00000168394 Genatlas:TAP1 HGNC:43 IUPHAR:769 OMIM:170260 Reactome:Q03518 SwissProt:Q03518 TAP1 transporter 1, ATP binding cassette subfamily B member 6p21.32 NGS17 TAPA TPN TPSN tapasin ClinVar:TAPBP Ensembl:ENSG00000231925 Genatlas:TAPBP HGNC:11566 OMIM:601962 Reactome:O15533 SwissProt:O15533 TAPBP TAP binding protein 6p12.1-p11.2 ClinVar:RAB23 Ensembl:ENSG00000112210 Genatlas:RAB23 HGNC:14263 OMIM:606144 Reactome:Q9ULC3 SwissProt:Q9ULC3 RAB23 RAB23, member RAS oncogene family 9q34.11 DK1 KIAA1094 dolichol kinase 1 ClinVar:DOLK Ensembl:ENSG00000175283 Genatlas:DOLK HGNC:23406 OMIM:610746 Reactome:Q9UPQ8 SwissProt:Q9UPQ8 DOLK dolichol kinase 19p12 CISS CISS1 CLF CLF-1 cold-induced sweating syndrome ClinVar:CRLF1 Ensembl:ENSG00000006016 Genatlas:CRLF1 HGNC:2364 OMIM:604237 Reactome:O75462 SwissProt:O75462 CRLF1 cytokine receptor like factor 1 7q31.32 LKR/SDH LKRSDH LORSDH alpha-aminoadipic semialdehyde synthase lysine ketoglutarate reductase/saccharopine dehydrogenase saccharopine dehydrogenase (NAD(+), L-glutamate-forming) saccharopine dehydrogenase (NADP(+), L-lysine-forming) ClinVar:AASS Ensembl:ENSG00000008311 Genatlas:AASS HGNC:17366 OMIM:605113 Reactome:Q9UDR5 SwissProt:Q9UDR5 AASS aminoadipate-semialdehyde synthase 5q22.2 DP2 DP2.5 DP3 PPP1R46 protein phosphatase 1, regulatory subunit 46 ClinVar:APC Ensembl:ENSG00000134982 Genatlas:APC HGNC:583 OMIM:611731 Reactome:P25054 SwissProt:P25054 APC APC regulator of WNT signaling pathway Autosomal recessive popliteal pterygium syndrome Lethal popliteal pterygium syndrome Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported. Orphanet ICD-10:Q87.2 ICD-11:LD26.4Y MeSH:C564874 OMIM:263650 OMIM:619339 UMLS:C1849718 Autosomal recessive Antenatal Neonatal Spain AND has_birth_prevalence_average_value : 0.15 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1234 Bartsocas-Papas syndrome ORPHA:1234 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MeSH:C564874 E (Exact mapping: the two concepts are equivalent) OMIM:263650 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:619339 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1849718 E (Exact mapping: the two concepts are equivalent) 15q26.1 BS RECQ2 RECQL3 ClinVar:BLM Ensembl:ENSG00000197299 Genatlas:BLM HGNC:1058 IUPHAR:3260 OMIM:604610 Reactome:P54132 SwissProt:P54132 BLM BLM RecQ like helicase 6p22.2 HFE1 HLA-H high Fe ClinVar:HFE Ensembl:ENSG00000010704 Genatlas:HFE HGNC:4886 OMIM:613609 Reactome:Q30201 SwissProt:Q30201 HFE homeostatic iron regulator 1q21.1 HFE2A HJV JH RGMC haemojuvelin hemojuvelin repulsive guidance molecule c ClinVar:HFE2 Ensembl:ENSG00000168509 Genatlas:HFE2 HGNC:4887 OMIM:608374 Reactome:Q6ZVN8 SwissProt:Q6ZVN8 HJV hemojuvelin BMP co-receptor 2p23.3 ACTH CLIP LPH MSH NPP POC adrenocorticotropic hormone adrenocorticotropin alpha-melanocyte stimulating hormone beta-endorphin beta-lipotropin beta-melanocyte stimulating hormone opiomelanocortin prepropeptide ClinVar:POMC Ensembl:ENSG00000115138 Genatlas:POMC HGNC:9201 OMIM:176830 Reactome:P01189 SwissProt:P01189 POMC proopiomelanocortin 2p21 ATR1 CSNU1 D2H NBAT RBAT amino acid transporter 1 neutral and basic amino acid transport protein rBAT ClinVar:SLC3A1 Ensembl:ENSG00000138079 Genatlas:SLC3A1 HGNC:11025 IUPHAR:889 OMIM:104614 Reactome:Q07837 SwissProt:Q07837 SLC3A1 solute carrier family 3 member 1 17q21.31 DAND6 VBCH ClinVar:SOST Ensembl:ENSG00000167941 Genatlas:SOST HGNC:13771 OMIM:605740 Reactome:Q9BQB4 SwissProt:Q9BQB4 SOST sclerostin 1p34.1 DKFZP564I122 cblC ClinVar:MMACHC Ensembl:ENSG00000132763 Genatlas:MMACHC HGNC:24525 OMIM:609831 Reactome:Q9Y4U1 SwissProt:Q9Y4U1 MMACHC metabolism of cobalamin associated C 11q22.2 CLG3 collagenase 3 ClinVar:MMP13 Ensembl:ENSG00000137745 Genatlas:MMP13 HGNC:7159 IUPHAR:1637 OMIM:600108 Reactome:P45452 SwissProt:P45452 MMP13 matrix metallopeptidase 13 16q12.2 TBE-1 ClinVar:MMP2 Ensembl:ENSG00000087245 Genatlas:MMP2 HGNC:7166 IUPHAR:1629 OMIM:120360 Reactome:P08253 SwissProt:P08253 MMP2 matrix metallopeptidase 2 18q12.2 FLJ20733 HMCS MCS MOS human molybdenum cofactor sulfurase ClinVar:MOCOS Ensembl:ENSG00000075643 Genatlas:MOCOS HGNC:18234 OMIM:613274 Reactome:Q96EN8 SwissProt:Q96EN8 MOCOS molybdenum cofactor sulfurase 6p21.2 MOCOD MOCS1A MOCS1B ClinVar:MOCS1 Ensembl:ENSG00000124615 Genatlas:MOCS1 HGNC:7190 OMIM:603707 Reactome:Q9NZB8 SwissProt:Q9NZB8 MOCS1 molybdenum cofactor synthesis 1 5q11.2 MOCO1 MOCS2A MOCS2B molybdopterin synthase catalytic subunit molybdopterin synthase large subunit molybdopterin synthase small subunit ClinVar:MOCS2 Ensembl:ENSG00000164172 Genatlas:MOCS2 HGNC:7193 OMIM:603708 Reactome:O96007 Reactome:O96033 SwissProt:O96007 SwissProt:O96033 MOCS2 molybdenum cofactor synthesis 2 17p13.1 CDGIf Lec35 PQLC5 SL15 SLC66A5 ClinVar:MPDU1 Ensembl:ENSG00000129255 Genatlas:MPDU1 HGNC:7207 IUPHAR:3164 OMIM:604041 Reactome:O75352 SwissProt:O75352 MPDU1 mannose-P-dolichol utilization defect 1 15q24.1 mannose-6-phosphate isomerase ClinVar:MPI Ensembl:ENSG00000178802 Genatlas:MPI HGNC:7216 OMIM:154550 Reactome:P34949 SwissProt:P34949 MPI mannose phosphate isomerase 1p34.2 CD110 THPOR TPOR ClinVar:MPL Ensembl:ENSG00000117400 Genatlas:MPL HGNC:7217 IUPHAR:1722 OMIM:159530 Reactome:P40238 SwissProt:P40238 MPL MPL proto-oncogene, thrombopoietin receptor 17q22 ClinVar:MPO Ensembl:ENSG00000005381 Genatlas:MPO HGNC:7218 IUPHAR:2789 OMIM:606989 Reactome:P05164 SwissProt:P05164 MPO myeloperoxidase 2p23.3 SYM1 glomerulosclerosis ClinVar:MPV17 Ensembl:ENSG00000115204 Genatlas:MPV17 HGNC:7224 OMIM:137960 SwissProt:P39210 MPV17 mitochondrial inner membrane protein MPV17 1q23.3 CMT2I CMT2J HMSNIB P0 ClinVar:MPZ Ensembl:ENSG00000158887 Genatlas:MPZ HGNC:7225 OMIM:159440 SwissProt:P25189 MPZ myelin protein zero 21q22.11 B27 FALP MRAP1 ClinVar:MRAP Ensembl:ENSG00000170262 Genatlas:MRAP HGNC:1304 OMIM:609196 SwissProt:Q8TCY5 MRAP melanocortin 2 receptor accessory protein 11q21 AT-like disease ATLD ClinVar:MRE11A Ensembl:ENSG00000020922 Genatlas:MRE11A HGNC:7230 OMIM:600814 Reactome:P49959 SwissProt:P49959 MRE11 MRE11 homolog, double strand break repair nuclease 2p21-p16.3 DNA mismatch repair protein Msh2 HNPCC HNPCC1 MSH-2 ClinVar:MSH2 Ensembl:ENSG00000095002 Genatlas:MSH2 HGNC:7325 OMIM:609309 Reactome:P43246 SwissProt:P43246 MSH2 mutS homolog 2 2p16.3 MSH-6 ClinVar:MSH6 Ensembl:ENSG00000116062 Genatlas:MSH6 HGNC:7329 OMIM:600678 Reactome:P52701 SwissProt:P52701 MSH6 mutS homolog 6 4p16.2 HYD1 OFC5 ClinVar:MSX1 Ensembl:ENSG00000163132 Genatlas:MSX1 HGNC:7391 OMIM:142983 SwissProt:P28360 MSX1 msh homeobox 1 OBSOLETE: Basan syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Absence of fingerprints-congenital milia syndrome OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome ORPHA:1235 5q35.2 CRS2 FPP HOX8 MSH PFM craniosynostosis, type 2 ClinVar:MSX2 Ensembl:ENSG00000120149 Genatlas:MSX2 HGNC:7392 OMIM:123101 Reactome:P35548 SwissProt:P35548 MSX2 msh homeobox 2 mitochondria ATP6 ATPase-6 Su6m mitochondrially encoded ATP synthase membrane subunit a ClinVar:MT-ATP6 Ensembl:ENSG00000198899 Genatlas:MT-ATP6 HGNC:7414 IUPHAR:801 OMIM:516060 Reactome:P00846 SwissProt:P00846 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 mitochondria COI COX1 ClinVar:MT-CO1 Ensembl:ENSG00000198804 Genatlas:MT-CO1 HGNC:7419 OMIM:516030 Reactome:P00395 SwissProt:P00395 MT-CO1 mitochondrially encoded cytochrome c oxidase I mitochondria CO2 COX2 ClinVar:MT-CO2 Ensembl:ENSG00000198712 Genatlas:MT-CO2 HGNC:7421 OMIM:516040 Reactome:P00403 SwissProt:P00403 MT-CO2 mitochondrially encoded cytochrome c oxidase II mitochondria CO3 COIII COX3 ClinVar:MT-CO3 Ensembl:ENSG00000198938 Genatlas:MT-CO3 HGNC:7422 OMIM:516050 Reactome:P00414 SwissProt:P00414 MT-CO3 mitochondrially encoded cytochrome c oxidase III mitochondria COB CYTB UQCR3 ClinVar:MT-CYB Ensembl:ENSG00000198727 Genatlas:MT-CYB HGNC:7427 OMIM:516020 Reactome:P00156 SwissProt:P00156 MT-CYB mitochondrially encoded cytochrome b 1p36.22 ClinVar:MTHFR Ensembl:ENSG00000177000 Genatlas:MTHFR HGNC:7436 OMIM:607093 Reactome:P42898 SwissProt:P42898 MTHFR methylenetetrahydrofolate reductase Xq28 ClinVar:MTM1 Ensembl:ENSG00000171100 Genatlas:MTM1 HGNC:7448 OMIM:300415 Reactome:Q13496 SwissProt:Q13496 MTM1 myotubularin 1 11q21 KIAA1073 phosphatidylinositol-3-phosphatase phosphoinositide-3-phosphatase ClinVar:MTMR2 Ensembl:ENSG00000087053 Genatlas:MTMR2 HGNC:7450 OMIM:603557 Reactome:Q13614 SwissProt:Q13614 MTMR2 myotubularin related protein 2 mitochondria NAD1 NADH-ubiquinone oxidoreductase chain 1 ND1 complex I ND1 subunit ClinVar:MT-ND1 Ensembl:ENSG00000198888 Genatlas:MT-ND1 HGNC:7455 OMIM:516000 Reactome:P03886 SwissProt:P03886 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 mitochondria NAD2 NADH-ubiquinone oxidoreductase chain 2 ND2 complex I ND2 subunit ClinVar:MT-ND2 Ensembl:ENSG00000198763 Genatlas:MT-ND2 HGNC:7456 OMIM:516001 Reactome:P03891 SwissProt:P03891 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 mitochondria NAD3 NADH-ubiquinone oxidoreductase chain 3 ND3 complex I ND3 subunit ClinVar:MT-ND3 Ensembl:ENSG00000198840 Genatlas:MT-ND3 HGNC:7458 OMIM:516002 Reactome:P03897 SwissProt:P03897 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 mitochondria NAD4 NADH-ubiquinone oxidoreductase chain 4 ND4 complex I ND4 subunit ClinVar:MT-ND4 Ensembl:ENSG00000198886 Genatlas:MT-ND4 HGNC:7459 OMIM:516003 Reactome:P03905 SwissProt:P03905 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 mitochondria NAD4L NADH-ubiquinone oxidoreductase chain 4L ND4L complex I ND4L subunit ClinVar:MT-ND4L Ensembl:ENSG00000212907 Genatlas:MT-ND4L HGNC:7460 OMIM:516004 Reactome:P03901 SwissProt:P03901 MT-ND4L mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L mitochondria NAD5 NADH-ubiquinone oxidoreductase chain 5 ND5 complex I ND5 subunit ClinVar:MT-ND5 Ensembl:ENSG00000198786 Genatlas:MT-ND5 HGNC:7461 OMIM:516005 Reactome:P03915 SwissProt:P03915 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 mitochondria NAD6 NADH-ubiquinone oxidoreductase chain 6 ND6 complex I ND6 subunit ClinVar:MT-ND6 Ensembl:ENSG00000198695 Genatlas:MT-ND6 HGNC:7462 OMIM:516006 Reactome:P03923 SwissProt:P03923 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 1q43 Methionine synthase cblG ClinVar:MTR Ensembl:ENSG00000116984 Genatlas:MTR HGNC:7468 IUPHAR:3099 OMIM:156570 Reactome:Q99707 SwissProt:Q99707 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 5p15.31 Methionine synthase reductase cblE ClinVar:MTRR Ensembl:ENSG00000124275 Genatlas:MTRR HGNC:7473 OMIM:602568 Reactome:Q9UBK8 SwissProt:Q9UBK8 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 4q23 ABL ClinVar:MTTP Ensembl:ENSG00000138823 Genatlas:MTTP HGNC:7467 OMIM:157147 Reactome:P55157 SwissProt:P55157 MTTP microsomal triglyceride transfer protein 6p12.3 MCM Methylmalonyl-CoA mutase, mitochondrial ClinVar:MUT Ensembl:ENSG00000146085 Genatlas:MUT HGNC:7526 OMIM:609058 Reactome:P22033 SwissProt:P22033 MMUT methylmalonyl-CoA mutase 1p34.1 MYH ClinVar:MUTYH Ensembl:ENSG00000132781 Genatlas:MUTYH HGNC:7527 OMIM:604933 Reactome:Q9UIF7 SwissProt:Q9UIF7 MUTYH mutY DNA glycosylase 12q24.11 LH receptor mRNA-binding protein LRBP MK mevalonic aciduria ClinVar:MVK Ensembl:ENSG00000110921 Genatlas:MVK HGNC:7530 IUPHAR:640 OMIM:251170 Reactome:Q03426 SwissProt:Q03426 MVK mevalonate kinase 11p11.2 FHC MYBP-C cMyBP-C ClinVar:MYBPC3 Ensembl:ENSG00000134571 Genatlas:MYBPC3 HGNC:7551 IUPHAR:2880 OMIM:600958 Reactome:Q14896 SwissProt:Q14896 MYBPC3 myosin binding protein C3 A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q87.8 MONDO:0015252 UMLS:C5190778 No data available Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1236 Historical entity Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome ORPHA:1236 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015252 E (Exact mapping: the two concepts are equivalent) UMLS:C5190778 E (Exact mapping: the two concepts are equivalent) 2p24.3 MYCNOT N-myc bHLHe37 ClinVar:MYCN Ensembl:ENSG00000134323 Genatlas:MYCN HGNC:7559 OMIM:164840 Reactome:P04198 SwissProt:P04198 MYCN MYCN proto-oncogene, bHLH transcription factor 12q21.31 MRF4 bHLHc4 herculin muscle-specific regulatory factor 4 ClinVar:MYF6 Ensembl:ENSG00000111046 Genatlas:MYF6 HGNC:7566 OMIM:159991 Reactome:P23409 SwissProt:P23409 MYF6 myogenic factor 6 16p13.11 SMHC SMMHC SMMS-1 ClinVar:MYH11 Ensembl:ENSG00000133392 Genatlas:MYH11 HGNC:7569 OMIM:160745 Reactome:P35749 SwissProt:P35749 MYH11 myosin heavy chain 11 19q13.33 FLJ13881 KIAA2034 MHC16 MYH17 ClinVar:MYH14 Ensembl:ENSG00000105357 Genatlas:MYH14 HGNC:23212 OMIM:608568 Reactome:Q7Z406 SwissProt:Q7Z406 MYH14 myosin heavy chain 14 17p13.1 MYH2A MYHSA2 MYHas8 MyHC-2A MyHC-IIa ClinVar:MYH2 Ensembl:ENSG00000125414 Genatlas:MYH2 HGNC:7572 OMIM:160740 Reactome:Q9UKX2 SwissProt:Q9UKX2 MYH2 myosin heavy chain 2 17p13.1 HEMHC MYHC-EMB MYHSE1 SMHCE muscle embryonic myosin heavy chain 3 myosin, skeletal, heavy chain, embryonic 1 ClinVar:MYH3 Ensembl:ENSG00000109063 Genatlas:MYH3 HGNC:7573 OMIM:160720 Reactome:P11055 SwissProt:P11055 MYH3 myosin heavy chain 3 14q11.2 cardiomyopathy, hypertrophic 1 ClinVar:MYH6 Ensembl:ENSG00000197616 Genatlas:MYH6 HGNC:7576 OMIM:160710 Reactome:P13533 SwissProt:P13533 MYH6 myosin heavy chain 6 14q11.2 CMD1S ClinVar:MYH7 Ensembl:ENSG00000092054 Genatlas:MYH7 HGNC:7577 OMIM:160760 Reactome:P12883 SwissProt:P12883 MYH7 myosin heavy chain 7 17p13.1 MyHC-peri MyHC-pn ClinVar:MYH8 Ensembl:ENSG00000133020 Genatlas:MYH8 HGNC:7578 OMIM:160741 Reactome:P13535 SwissProt:P13535 MYH8 myosin heavy chain 8 22q12.3 EPSTS FTNS MHA NMHC-II-A NMMHCA nonmuscle myosin heavy chain II-A ClinVar:MYH9 Ensembl:ENSG00000100345 Genatlas:MYH9 HGNC:7579 OMIM:160775 Reactome:P35579 SwissProt:P35579 MYH9 myosin heavy chain 9 12q24.11 CMH10 cardiac ventricular myosin light chain 2 ClinVar:MYL2 Ensembl:ENSG00000111245 Genatlas:MYL2 HGNC:7583 OMIM:160781 Reactome:P10916 SwissProt:P10916 MYL2 myosin light chain 2 17p11.2 ClinVar:MYO15A Ensembl:ENSG00000091536 Genatlas:MYO15A HGNC:7594 OMIM:602666 SwissProt:Q9UKN7 MYO15A myosin XVA 15q21.2 GS1 MYO5 MYR12 Unconventional myosin-Va myosin V myosin heavy chain 12 myosin, heavy polypeptide kinase myoxin ClinVar:MYO5A Ensembl:ENSG00000197535 Genatlas:MYO5A HGNC:7602 OMIM:160777 Reactome:Q9Y4I1 SwissProt:Q9Y4I1 MYO5A myosin VA 6q14.1 KIAA0389 ClinVar:MYO6 Ensembl:ENSG00000196586 Genatlas:MYO6 HGNC:7605 OMIM:600970 Reactome:Q9UM54 SwissProt:Q9UM54 MYO6 myosin VI 11q13.5 NSRD2 ClinVar:MYO7A Ensembl:ENSG00000137474 Genatlas:MYO7A HGNC:7606 OMIM:276903 Reactome:Q13402 SwissProt:Q13402 MYO7A myosin VIIA 1q24.3 JOAG1 TIGR juvenile-onset open-angle glaucoma 1 trabecular meshwork inducible glucocorticoid response protein ClinVar:MYOC Ensembl:ENSG00000034971 Genatlas:MYOC HGNC:7610 OMIM:601652 SwissProt:Q99972 MYOC myocilin 5q31.2 ClinVar:MYOT Ensembl:ENSG00000120729 Genatlas:MYOT HGNC:12399 OMIM:604103 Reactome:Q9UBF9 SwissProt:Q9UBF9 MYOT myotilin 22q13.2 D22S674 alpha-galactosidase B ClinVar:NAGA Ensembl:ENSG00000198951 Genatlas:NAGA HGNC:7631 OMIM:104170 SwissProt:P17050 NAGA alpha-N-acetylgalactosaminidase 17q21.2 NAG Sanfilippo disease IIIB ClinVar:NAGLU Ensembl:ENSG00000108784 Genatlas:NAGLU HGNC:7632 OMIM:609701 Reactome:P54802 SwissProt:P54802 NAGLU N-acetyl-alpha-glucosaminidase 17q21.31 AGAS ARGA NAT7 ClinVar:NAGS Ensembl:ENSG00000161653 Genatlas:NAGS HGNC:17996 OMIM:608300 Reactome:Q8N159 SwissProt:Q8N159 NAGS N-acetylglutamate synthase 5q13.2 NLR family, BIR domain containing 1 NLRB1 nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1 ClinVar:NAIP Ensembl:ENSG00000249437 Genatlas:NAIP HGNC:7634 IUPHAR:2793 OMIM:600355 SwissProt:Q13075 NAIP NLR family apoptosis inhibitory protein 8q21.3 AT-V1 AT-V2 ATV ClinVar:NBN Ensembl:ENSG00000104320 Genatlas:NBN HGNC:7652 OMIM:602667 Reactome:O60934 SwissProt:O60934 NBN nibrin 7q11.23 NADPH oxidase organizer 2 NCF1A NOXO2 SH3PXD1A chronic granulomatous disease, autosomal 1 p47phox ClinVar:NCF1 Ensembl:ENSG00000158517 Genatlas:NCF1 HGNC:7660 OMIM:608512 Reactome:P14598 SwissProt:P14598 NCF1 neutrophil cytosolic factor 1 Lethal hydrocephalus-cardiac malformation-dense bones syndrome Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984. Orphanet ICD-10:Q87.8 MONDO:0008857 MeSH:C537668 OMIM:209970 UMLS:C1859526 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1237 Historical entity Beemer-Ertbruggen syndrome ORPHA:1237 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0008857 E (Exact mapping: the two concepts are equivalent) MeSH:C537668 E (Exact mapping: the two concepts are equivalent) OMIM:209970 E (Exact mapping: the two concepts are equivalent) UMLS:C1859526 E (Exact mapping: the two concepts are equivalent) 1q25.3 NADPH oxidase activator 2 NOXA2 chronic granulomatous disease, autosomal 2 p67phox ClinVar:NCF2 Ensembl:ENSG00000116701 Genatlas:NCF2 HGNC:7661 OMIM:608515 Reactome:P19878 SwissProt:P19878 NCF2 neutrophil cytosolic factor 2 15q11.2 HsT16328 PWCR Prader-Willi syndrome chromosome region ClinVar:NDN Ensembl:ENSG00000182636 Genatlas:NDN HGNC:7675 OMIM:602117 Reactome:Q99608 SwissProt:Q99608 NDN necdin, MAGE family member Xp11.3 norrin ClinVar:NDP Ensembl:ENSG00000124479 Genatlas:NDP HGNC:7678 OMIM:300658 Reactome:Q00604 SwissProt:Q00604 NDP norrin cystine knot growth factor NDP 8q24.22 DRG1 NDR1 RTP TDD5 ClinVar:NDRG1 Ensembl:ENSG00000104419 Genatlas:NDRG1 HGNC:7679 OMIM:605262 Reactome:Q92597 SwissProt:Q92597 NDRG1 N-myc downstream regulated 1 5q12.1 B17.2L MMTN Myc-induced mitochondrial protein mimitin ClinVar:NDUFAF2 Ensembl:ENSG00000164182 Genatlas:NDUFAF2 HGNC:28086 OMIM:609653 Reactome:Q8N183 SwissProt:Q8N183 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 2q33.3 CI-75k NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial complex I 75kDa subunit ClinVar:NDUFS1 Ensembl:ENSG00000023228 Genatlas:NDUFS1 HGNC:7707 OMIM:157655 Reactome:P28331 SwissProt:P28331 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 1q23.3 CI-49 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial complex I 49kDa subunit ClinVar:NDUFS2 Ensembl:ENSG00000158864 Genatlas:NDUFS2 HGNC:7708 OMIM:602985 Reactome:O75306 SwissProt:O75306 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 11p11.2 CI-30 NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial complex I 30kDa subunit ClinVar:NDUFS3 Ensembl:ENSG00000213619 Genatlas:NDUFS3 HGNC:7710 OMIM:603846 Reactome:O75489 SwissProt:O75489 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 5q11.2 AQDQ CI-18 complex I 18kDa subunit ClinVar:NDUFS4 Ensembl:ENSG00000164258 Genatlas:NDUFS4 HGNC:7711 OMIM:602694 Reactome:O43181 SwissProt:O43181 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 5p15.33 CI-13kA NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial complex I 13kDa subunit A ClinVar:NDUFS6 Ensembl:ENSG00000145494 Genatlas:NDUFS6 HGNC:7713 OMIM:603848 Reactome:O75380 SwissProt:O75380 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 19p13.3 CI-20 FLJ45860 FLJ46880 NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial PSST complex I 20kDa subunit ClinVar:NDUFS7 Ensembl:ENSG00000115286 Genatlas:NDUFS7 HGNC:7714 OMIM:601825 Reactome:O75251 SwissProt:O75251 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 11q13.2 CI-23k NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial TYKY complex I 23kDa subunit ClinVar:NDUFS8 Ensembl:ENSG00000110717 Genatlas:NDUFS8 HGNC:7715 OMIM:602141 Reactome:O00217 SwissProt:O00217 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 11q13.2 CI-51K NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial complex I 51kDa subunit ClinVar:NDUFV1 Ensembl:ENSG00000167792 Genatlas:NDUFV1 HGNC:7716 OMIM:161015 Reactome:P49821 SwissProt:P49821 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 18p11.22 CI-24k NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial complex I 24kDa subunit ClinVar:NDUFV2 Ensembl:ENSG00000178127 Genatlas:NDUFV2 HGNC:7717 OMIM:600532 Reactome:P19404 SwissProt:P19404 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 2q23.3 NEB177D nemaline myopathy type 2 ClinVar:NEB Ensembl:ENSG00000183091 Genatlas:NEB HGNC:7720 OMIM:161650 Reactome:P20929 SwissProt:P20929 NEB nebulin 22q12.2 NF-H NFH ClinVar:NEFH Ensembl:ENSG00000100285 Genatlas:NEFH HGNC:7737 OMIM:162230 SwissProt:P12036 NEFH neurofilament heavy chain 8p21.2 CMT1F CMT2E NF68 NFL PPP1R110 protein phosphatase 1, regulatory subunit 110 ClinVar:NEFL Ensembl:ENSG00000277586 Genatlas:NEFL HGNC:7739 OMIM:162280 Reactome:P07196 SwissProt:P07196 NEFL neurofilament light chain 9q34.3 ClinVar:NELF Ensembl:ENSG00000165802 Genatlas:NELF HGNC:29843 OMIM:608137 SwissProt:Q6X4W1 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor 6p21.33 sialidase-1 ClinVar:NEU1 Ensembl:ENSG00000204386 Genatlas:NEU1 HGNC:7758 IUPHAR:3214 OMIM:608272 Reactome:Q99519 SwissProt:Q99519 NEU1 neuraminidase 1 2q31.3 BETA2 BHF-1 MODY6 NeuroD bHLHa3 beta-cell E-box transactivator 2 neurogenic helix-loop-helix protein NEUROD ClinVar:NEUROD1 Ensembl:ENSG00000162992 Genatlas:NEUROD1 HGNC:7762 OMIM:601724 Reactome:Q13562 SwissProt:Q13562 NEUROD1 neuronal differentiation 1 10q22.1 Atoh5 Math4B bHLHa7 ngn3 ClinVar:NEUROG3 Ensembl:ENSG00000122859 Genatlas:NEUROG3 HGNC:13806 OMIM:604882 Reactome:Q9Y4Z2 SwissProt:Q9Y4Z2 NEUROG3 neurogenin 3 17q11.2 Watson disease neurofibromatosis von Recklinghausen disease ClinVar:NF1 Ensembl:ENSG00000196712 Genatlas:NF1 HGNC:7765 OMIM:613113 Reactome:P21359 SwissProt:P21359 NF1 neurofibromin 1 22q12.2 ACN BANF Merlin SCH bilateral acoustic neurofibromatosis merlin merlin-1 moesin-ezrin-radixin like schwannomin ClinVar:NF2 Ensembl:ENSG00000186575 Genatlas:NF2 HGNC:7773 OMIM:607379 Reactome:P35240 SwissProt:P35240 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor 1p13.2 ClinVar:NGF Ensembl:ENSG00000134259 Genatlas:NGF HGNC:7808 OMIM:162030 Reactome:P01138 SwissProt:P01138 NGF nerve growth factor 6p22.3 EPM2B bA204B7.2 epilepsy, progressive myoclonus type 2B malin ClinVar:NHLRC1 Ensembl:ENSG00000187566 Genatlas:NHLRC1 HGNC:21576 OMIM:608072 Reactome:Q6VVB1 SwissProt:Q6VVB1 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 Xp22.2-p22.13 ClinVar:NHS Ensembl:ENSG00000188158 Genatlas:NHS HGNC:7820 OMIM:300457 SwissProt:Q6T4R5 NHS NHS actin remodeling regulator 15q11.2 MGC35570 SLC57A1 ClinVar:NIPA1 Ensembl:ENSG00000170113 Genatlas:NIPA1 HGNC:17043 IUPHAR:3033 OMIM:608145 Reactome:Q7RTP0 SwissProt:Q7RTP0 NIPA1 NIPA magnesium transporter 1 5p13.2 DKFZp434L1319 FLJ11203 FLJ12597 FLJ13354 FLJ13648 IDN3 Scc2 sister chromatid cohesion 2 homolog (yeast) ClinVar:NIPBL Ensembl:ENSG00000164190 Genatlas:NIPBL HGNC:28862 OMIM:608667 Reactome:Q6KC79 SwissProt:Q6KC79 NIPBL NIPBL cohesin loading factor 5q35.1 CSX1 NKX2.5 NKX4-1 tinman (Drosophila) homolog tinman paralog (Drosophila) ClinVar:NKX2-5 Ensembl:ENSG00000183072 Genatlas:NKX2-5 HGNC:2488 OMIM:600584 Reactome:P52952 SwissProt:P52952 NKX2-5 NK2 homeobox 5 1q44 AGTAVPRL AII AVP CLR1.1 Cryopyrin FCAS FCU MWS NALP3 PYPAF1 nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3 ClinVar:NLRP3 Ensembl:ENSG00000162711 Genatlas:NLRP3 HGNC:16400 IUPHAR:1770 OMIM:606416 Reactome:Q96P20 SwissProt:Q96P20 NLRP3 NLR family pyrin domain containing 3 19q13.42 CLR19.4 NOD12 PAN7 PYPAF3 nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7 ClinVar:NLRP7 Ensembl:ENSG00000167634 Genatlas:NLRP7 HGNC:22947 IUPHAR:1774 OMIM:609661 SwissProt:Q8WX94 NLRP7 NLR family pyrin domain containing 7 16q12.1 BLAU CD CLR16.3 NLR family, CARD domain containing 2 NLRC2 NOD-like receptor C2 PSORAS1 nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2 ClinVar:NOD2 Ensembl:ENSG00000167207 Genatlas:NOD2 HGNC:5331 IUPHAR:1763 OMIM:605956 Reactome:Q9HC29 SwissProt:Q9HC29 NOD2 nucleotide binding oligomerization domain containing 2 17q22 ClinVar:NOG Ensembl:ENSG00000183691 Genatlas:NOG HGNC:7866 OMIM:602991 Reactome:Q13253 SwissProt:Q13253 NOG noggin 1p12 ClinVar:NOTCH2 Ensembl:ENSG00000134250 Genatlas:NOTCH2 HGNC:7882 IUPHAR:2859 OMIM:600275 Reactome:Q04721 SwissProt:Q04721 NOTCH2 notch receptor 2 19p13.12 CASIL ClinVar:NOTCH3 Ensembl:ENSG00000074181 Genatlas:NOTCH3 HGNC:7883 IUPHAR:2860 OMIM:600276 Reactome:Q9UM47 SwissProt:Q9UM47 NOTCH3 notch receptor 3 14q11.2 PUNP ClinVar:NP Ensembl:ENSG00000198805 Genatlas:NP HGNC:7892 IUPHAR:2841 OMIM:164050 Reactome:P00491 SwissProt:P00491 PNP purine nucleoside phosphorylase 18q11.2 SLC65A1 ClinVar:NPC1 Ensembl:ENSG00000141458 Genatlas:NPC1 HGNC:7897 IUPHAR:3051 OMIM:607623 Reactome:O15118 SwissProt:O15118 NPC1 NPC intracellular cholesterol transporter 1 14q24.3 EDDM1 HE1 NP-C2 epididymal protein 1 ClinVar:NPC2 Ensembl:ENSG00000119655 Genatlas:NPC2 HGNC:14537 OMIM:601015 Reactome:P61916 SwissProt:P61916 NPC2 NPC intracellular cholesterol transporter 2 2q13 JBTS4 SLSN1 ClinVar:NPHP1 Ensembl:ENSG00000144061 Genatlas:NPHP1 HGNC:7905 OMIM:607100 Reactome:O15259 SwissProt:O15259 NPHP1 nephrocystin 1 3q22.1 CFAP31 FLJ30691 FLJ36696 KIAA2000 MKS7 Meckel syndrome, type 7 NPH3 SLSN3 cilia and flagella associated protein 31 ClinVar:NPHP3 Ensembl:ENSG00000113971 Genatlas:NPHP3 HGNC:7907 OMIM:608002 Reactome:Q7Z494 SwissProt:Q7Z494 NPHP3 nephrocystin 3 1p36.31 KIAA0673 POC10 POC10 centriolar protein homolog (Chlamydomonas) SLSN4 nephroretinin ClinVar:NPHP4 Ensembl:ENSG00000131697 Genatlas:NPHP4 HGNC:19104 OMIM:607215 Reactome:O75161 SwissProt:O75161 NPHP4 nephrocystin 4 19q13.12 CNF NPHN ClinVar:NPHS1 Ensembl:ENSG00000161270 Genatlas:NPHS1 HGNC:7908 OMIM:602716 Reactome:O60500 SwissProt:O60500 NPHS1 NPHS1 adhesion molecule, nephrin 1q25.2 PDCN SRN1 ClinVar:NPHS2 Ensembl:ENSG00000116218 Genatlas:NPHS2 HGNC:13394 OMIM:604766 Reactome:Q9NP85 SwissProt:Q9NP85 NPHS2 NPHS2 stomatin family member, podocin 9p13.3 ANPb GC-B GUCY2B guanylate cyclase 2B guanylyl cyclase B ClinVar:NPR2 Ensembl:ENSG00000159899 Genatlas:NPR2 HGNC:7944 IUPHAR:1748 OMIM:108961 Reactome:P20594 SwissProt:P20594 NPR2 natriuretic peptide receptor 2 Behr complicated familial optic atrophy ICD-10:H47.2 MONDO:0008858 OMIM:210000 UMLS:C0221061 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1239 Behr syndrome ORPHA:1239 ICD-10:H47.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0008858 E (Exact mapping: the two concepts are equivalent) OMIM:210000 E (Exact mapping: the two concepts are equivalent) UMLS:C0221061 E (Exact mapping: the two concepts are equivalent) Xp21.2 AHCH DAX1 ClinVar:NR0B1 Ensembl:ENSG00000169297 Genatlas:NR0B1 HGNC:7960 IUPHAR:635 OMIM:300473 Reactome:P51843 SwissProt:P51843 NR0B1 nuclear receptor subfamily 0 group B member 1 15q23 PNR RP37 rd7 ClinVar:NR2E3 Ensembl:ENSG00000278570 Genatlas:NR2E3 HGNC:7974 IUPHAR:616 OMIM:604485 Reactome:Q9Y5X4 SwissProt:Q9Y5X4 NR2E3 nuclear receptor subfamily 2 group E member 3 5q31.3 GR ClinVar:NR3C1 Ensembl:ENSG00000113580 Genatlas:NR3C1 HGNC:7978 IUPHAR:625 OMIM:138040 Reactome:P04150 SwissProt:P04150 NR3C1 nuclear receptor subfamily 3 group C member 1 4q31.23 MR ClinVar:NR3C2 Ensembl:ENSG00000151623 Genatlas:NR3C2 HGNC:7979 IUPHAR:626 OMIM:600983 Reactome:P08235 SwissProt:P08235 NR3C2 nuclear receptor subfamily 3 group C member 2 14q11.2-q12 D14S46E Maf-family bZIP transcription factor NRL NRL-MAF RP27 ClinVar:NRL Ensembl:ENSG00000129535 Genatlas:NRL HGNC:8002 OMIM:162080 SwissProt:P54845 NRL neural retina leucine zipper 19p13.3 NTN prepro-neurturin ClinVar:NRTN Ensembl:ENSG00000171119 Genatlas:NRTN HGNC:8007 OMIM:602018 Reactome:Q99748 SwissProt:Q99748 NRTN neurturin 5q35.3 ARA267 FLJ22263 KMT3B histone-lysine N-methyltransferase, H3 lysine-36 specific ClinVar:NSD1 Ensembl:ENSG00000165671 Genatlas:NSD1 HGNC:14234 IUPHAR:2696 OMIM:606681 Reactome:Q96L73 SwissProt:Q96L73 NSD1 nuclear receptor binding SET domain protein 1 Xq28 3-beta-hydroxysteroid dehydrogenase 3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating) H105e3 SDR31E1 XAP104 short chain dehydrogenase/reductase family 31E, member 1 ClinVar:NSDHL Ensembl:ENSG00000147383 Genatlas:NSDHL HGNC:13398 IUPHAR:3297 OMIM:300275 Reactome:Q15738 SwissProt:Q15738 NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL 7p14.3 P5'N-1 PN-I POMP PSN1 UMPH UMPH1 cN-III hUMP1 lupin p36 ClinVar:NT5C3A Ensembl:ENSG00000122643 Genatlas:NT5C3A HGNC:17820 IUPHAR:1237 OMIM:606224 Reactome:Q9H0P0 SwissProt:Q9H0P0 NT5C3A 5'-nucleotidase, cytosolic IIIA 1q23.1 MTC TRK TRKA high affinity nerve growth factor receptor tropomyosin receptor kinase A ClinVar:NTRK1 Ensembl:ENSG00000198400 Genatlas:NTRK1 HGNC:8031 IUPHAR:1817 OMIM:191315 Reactome:P04629 SwissProt:P04629 NTRK1 neurotrophic receptor tyrosine kinase 1 Xp11.4 CLRP CSNB1A ClinVar:NYX Ensembl:ENSG00000188937 Genatlas:NYX HGNC:8082 OMIM:300278 Reactome:Q9GZU5 SwissProt:Q9GZU5 NYX nyctalopin 10q26.13 HOGA Ornithine aminotransferase gyrate atrophy ornithine aminotransferase precursor ClinVar:OAT Ensembl:ENSG00000065154 Genatlas:OAT HGNC:8091 OMIM:613349 Reactome:P04181 SwissProt:P04181 OAT ornithine aminotransferase 15q12-q13.1 BEY BEY1 BEY2 EYCL P-protein SLC13B1 melanocyte-specific transporter protein ClinVar:OCA2 Ensembl:ENSG00000104044 Genatlas:OCA2 HGNC:8101 OMIM:611409 Reactome:Q04671 SwissProt:Q04671 OCA2 OCA2 melanosomal transmembrane protein Xq26.1 Dent disease 2 Dent-2 OCRL1 ClinVar:OCRL Ensembl:ENSG00000122126 Genatlas:OCRL HGNC:8108 IUPHAR:1460 OMIM:300535 Reactome:Q01968 SwissProt:Q01968 OCRL OCRL inositol polyphosphate-5-phosphatase Xp22.2 71-7A JBTS10 Joubert syndrome type 10 ClinVar:OFD1 Ensembl:ENSG00000046651 Genatlas:OFD1 HGNC:2567 OMIM:300170 Reactome:O75665 SwissProt:O75665 OFD1 OFD1 centriole and centriolar satellite protein 3q29 Dynamin-like 120 kDa protein, mitochondrial FLJ12460 KIAA0567 MGM1 NPG NTG dynamin-like guanosine triphosphatase mitochondrial dynamin-like GTPase ClinVar:OPA1 Ensembl:ENSG00000198836 Genatlas:OPA1 HGNC:8140 OMIM:605290 Reactome:O60313 SwissProt:O60313 OPA1 OPA1 mitochondrial dynamin like GTPase Congenital PRCA Congenital pure red cell aplasia Diamond-Blackfan anemia syndrome Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia. Orphanet ICD-10:D61.0 ICD-11:3A60.1 MONDO:0015253 MeSH:D029503 MedDRA:10062989 OMIM:105650 OMIM:300946 OMIM:606129 OMIM:606164 OMIM:610629 OMIM:612527 OMIM:612528 OMIM:612561 OMIM:612562 OMIM:612563 OMIM:613308 OMIM:613309 OMIM:614900 OMIM:615550 OMIM:615909 OMIM:617408 OMIM:617409 OMIM:618310 OMIM:618312 OMIM:618313 OMIM:620072 UMLS:C0265265 Autosomal dominant Childhood Infancy Neonatal China AND has_point_prevalence_average_value : 0.194 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=124 Diamond-Blackfan anemia ORPHA:124 ICD-10:D61.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:3A60.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015253 E (Exact mapping: the two concepts are equivalent) MeSH:D029503 E (Exact mapping: the two concepts are equivalent) MedDRA:10062989 E (Exact mapping: the two concepts are equivalent) OMIM:105650 E (Exact mapping: the two concepts are equivalent) OMIM:300946 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606129 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:606164 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610629 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612527 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612528 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612561 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612562 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612563 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613308 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613309 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614900 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615550 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615909 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617408 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:617409 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618310 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618312 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618313 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620072 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0265265 E (Exact mapping: the two concepts are equivalent) Bellini syndrome Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Acrodysostosis MONDO:0009592 MeSH:C537350 OMIM:250215 UMLS:C1855243 Metaphyseal acroscyphodysplasia ORPHA:1240 MONDO:0009592 E (Exact mapping: the two concepts are equivalent) MeSH:C537350 E (Exact mapping: the two concepts are equivalent) OMIM:250215 E (Exact mapping: the two concepts are equivalent) UMLS:C1855243 E (Exact mapping: the two concepts are equivalent) 19q13.32 3-methylglutaconic aciduria type III FLJ22187 MGA3 ClinVar:OPA3 Ensembl:ENSG00000125741 Genatlas:OPA3 HGNC:8142 OMIM:606580 SwissProt:Q9H6K4 OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 Xq28 COD5 cone dystrophy 5 (X-linked) ClinVar:OPN1LW Ensembl:ENSG00000102076 Genatlas:OPN1LW HGNC:9936 IUPHAR:2961 OMIM:300822 Reactome:P04000 SwissProt:P04000 OPN1LW opsin 1, long wave sensitive Xq28 COD5 OPN1MW1 cone dystrophy 5 (X-linked) ClinVar:OPN1MW Ensembl:ENSG00000268221 Genatlas:OPN1MW HGNC:4206 IUPHAR:2962 OMIM:300821 Reactome:P04001 SwissProt:P04001 OPN1MW opsin 1, medium wave sensitive 7q32.1 BOP CBT blue-sensitive opsin color blindness, tritan ClinVar:OPN1SW Ensembl:ENSG00000128617 Genatlas:OPN1SW HGNC:1012 IUPHAR:2960 OMIM:613522 Reactome:P03999 SwissProt:P03999 OPN1SW opsin 1, short wave sensitive 10p13 FIP-2 FIP2 HIP7 HYPL NRP TFIIIA-INTP ClinVar:OPTN Ensembl:ENSG00000123240 Genatlas:OPTN HGNC:17142 OMIM:602432 Reactome:Q96CV9 SwissProt:Q96CV9 OPTN optineurin 6q21 CLCN7 accessory beta subunit GL HSPC019 grey-lethal ClinVar:OSTM1 Ensembl:ENSG00000081087 Genatlas:OSTM1 HGNC:21652 OMIM:607649 Reactome:Q86WC4 SwissProt:Q86WC4 OSTM1 osteoclastogenesis associated transmembrane protein 1 Xp11.4 OTC1 OTCD OTCase ornithine transcarbamylase deficiency ClinVar:OTC Ensembl:ENSG00000036473 Genatlas:OTC HGNC:8512 OMIM:300461 Reactome:P00480 SwissProt:P00480 OTC ornithine transcarbamylase 2p23.3 DFNB6 FER1L2 fer-1-like family member 2 ClinVar:OTOF Ensembl:ENSG00000115155 Genatlas:OTOF HGNC:8515 OMIM:603681 SwissProt:Q9HC10 OTOF otoferlin 14q22.3 ClinVar:OTX2 Ensembl:ENSG00000165588 Genatlas:OTX2 HGNC:8522 OMIM:600037 SwissProt:P32243 OTX2 orthodenticle homeobox 2 5p13.1 SCOT Succinyl-CoA:3-ketoacid-CoA transferase ClinVar:OXCT1 Ensembl:ENSG00000083720 Genatlas:OXCT1 HGNC:8527 OMIM:601424 Reactome:P55809 SwissProt:P55809 OXCT1 3-oxoacid CoA-transferase 1 3q25.1 HORK3 P2Y12 SP1999 ClinVar:P2RY12 Ensembl:ENSG00000169313 Genatlas:P2RY12 HGNC:18124 IUPHAR:328 OMIM:600515 Reactome:Q9H244 SwissProt:Q9H244 P2RY12 purinergic receptor P2Y12 14q11.2 PAB2 ClinVar:PABPN1 Ensembl:ENSG00000100836 Genatlas:PABPN1 HGNC:8565 OMIM:602279 Reactome:Q86U42 SwissProt:Q86U42 PABPN1 poly(A) binding protein nuclear 1 17p13.3 LIS1 NudF PAFAH lissencephaly-1 ClinVar:PAFAH1B1 Ensembl:ENSG00000007168 Genatlas:PAFAH1B1 HGNC:8574 OMIM:601545 Reactome:P43034 SwissProt:P43034 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 12q23.2 PH phenylalanine 4-monooxygenase ClinVar:PAH Ensembl:ENSG00000171759 Genatlas:PAH HGNC:8582 IUPHAR:1240 OMIM:612349 Reactome:P00439 SwissProt:P00439 PAH phenylalanine hydroxylase 20p13 FLJ11729 HARP HSS Hallervorden-Spatz syndrome PKAN pantothenate kinase-associated neurodegeneration ClinVar:PANK2 Ensembl:ENSG00000125779 Genatlas:PANK2 HGNC:15894 OMIM:606157 Reactome:Q9BZ23 SwissProt:Q9BZ23 PANK2 pantothenate kinase 2 10q23.2-q23.31 ATPSK2 PAPS synthase 2 adenosine 5'-phosphosulfate kinase adenylyl-sulfate kinase bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 sulfate adenylyltransferase ClinVar:PAPSS2 Ensembl:ENSG00000198682 Genatlas:PAPSS2 HGNC:8604 OMIM:603005 Reactome:O95340 SwissProt:O95340 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 6q26 AR-JP E3 ubiquitin ligase PDJ parkin ClinVar:PARK2 Ensembl:ENSG00000185345 Genatlas:PARK2 HGNC:8607 OMIM:602544 Reactome:O60260 SwissProt:O60260 PRKN parkin RBR E3 ubiquitin protein ligase 1p36.23 DJ-1 DJ1 GATD2 ClinVar:PARK7 Ensembl:ENSG00000116288 Genatlas:PARK7 HGNC:16369 OMIM:602533 Reactome:Q99497 SwissProt:Q99497 PARK7 Parkinsonism associated deglycase 10q24.31 PAX-2 ClinVar:PAX2 Ensembl:ENSG00000075891 Genatlas:PAX2 HGNC:8616 OMIM:167409 SwissProt:Q02962 PAX2 paired box 2 2q36.1 HUP2 PAX-3 ClinVar:PAX3 Ensembl:ENSG00000135903 Genatlas:PAX3 HGNC:8617 OMIM:606597 Reactome:P23760 SwissProt:P23760 PAX3 paired box 3 11p13 AN Aniridia 1 Aniridia 2 D11S812E WAGR aniridia, keratitis ClinVar:PAX6 Ensembl:ENSG00000007372 Genatlas:PAX6 HGNC:8620 OMIM:607108 Reactome:P26367 SwissProt:P26367 PAX6 paired box 6 Hemifacial hyperplasia-strabismus syndrome Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. Orphanet ICD-10:Q67.4 MONDO:0007711 MeSH:C564199 OMIM:141350 UMLS:C1841640 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1241 Historical entity Bencze syndrome ORPHA:1241 ICD-10:Q67.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0007711 E (Exact mapping: the two concepts are equivalent) MeSH:C564199 E (Exact mapping: the two concepts are equivalent) OMIM:141350 E (Exact mapping: the two concepts are equivalent) UMLS:C1841640 E (Exact mapping: the two concepts are equivalent) 1p36.13 Hup1 ClinVar:PAX7 Ensembl:ENSG00000009709 Genatlas:PAX7 HGNC:8621 OMIM:167410 SwissProt:P23759 PAX7 paired box 7 2q14.1 PAX-8 ClinVar:PAX8 Ensembl:ENSG00000125618 Genatlas:PAX8 HGNC:8622 OMIM:167415 Reactome:Q06710 SwissProt:Q06710 PAX8 paired box 8 14q13.3 ClinVar:PAX9 Ensembl:ENSG00000198807 Genatlas:PAX9 HGNC:8623 OMIM:167416 Reactome:P55771 SwissProt:P55771 PAX9 paired box 9 11q13.2 PCB ClinVar:PC Ensembl:ENSG00000173599 Genatlas:PC HGNC:8636 IUPHAR:1262 OMIM:608786 Reactome:P11498 SwissProt:P11498 PC pyruvate carboxylase 10q22.1 PCD Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha) dimerizing cofactor for HNF1 pterin-4-alpha carbinolamine dehydratase ClinVar:PCBD1 Ensembl:ENSG00000166228 Genatlas:PCBD1 HGNC:8646 OMIM:126090 Reactome:P61457 SwissProt:P61457 PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 13q32.3 ClinVar:PCCA Ensembl:ENSG00000175198 Genatlas:PCCA HGNC:8653 IUPHAR:1266 OMIM:232000 Reactome:P05165 SwissProt:P05165 PCCA propionyl-CoA carboxylase subunit alpha 3q22.3 ClinVar:PCCB Ensembl:ENSG00000114054 Genatlas:PCCB HGNC:8654 IUPHAR:1267 OMIM:232050 Reactome:P05166 SwissProt:P05166 PCCB propionyl-CoA carboxylase subunit beta 10q21.1 CDHR15 cadherin-related family member 15 ClinVar:PCDH15 Ensembl:ENSG00000150275 Genatlas:PCDH15 HGNC:14674 OMIM:605514 SwissProt:Q96QU1 PCDH15 protocadherin related 15 20q13.31 PEPCK-C ClinVar:PCK1 Ensembl:ENSG00000124253 Genatlas:PCK1 HGNC:8724 OMIM:614168 Reactome:P35558 SwissProt:P35558 PCK1 phosphoenolpyruvate carboxykinase 1 14q11.2-q12 PEPCK PEPCK2 ClinVar:PCK2 Ensembl:ENSG00000100889 Genatlas:PCK2 HGNC:8725 OMIM:614095 Reactome:Q16822 SwissProt:Q16822 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial 8p22 PTC4 ClinVar:PCM1 Ensembl:ENSG00000078674 Genatlas:PCM1 HGNC:8727 OMIM:600299 Reactome:Q15154 SwissProt:Q15154 PCM1 pericentriolar material 1 5q15 PC1 PC1/3 PC3 SPC3 prohormone convertase 1 prohormone convertase 3 proprotein convertase 1 proprotein convertase 1/3 ClinVar:PCSK1 Ensembl:ENSG00000175426 Genatlas:PCSK1 HGNC:8743 IUPHAR:2382 OMIM:162150 Reactome:P29120 SwissProt:P29120 PCSK1 proprotein convertase subtilisin/kexin type 1 1p32.3 FH3 NARC-1 ClinVar:PCSK9 Ensembl:ENSG00000169174 Genatlas:PCSK9 HGNC:20001 IUPHAR:2388 OMIM:607786 Reactome:Q8NBP7 SwissProt:Q8NBP7 PCSK9 proprotein convertase subtilisin/kexin type 9 3q26.1 TFAR15 ClinVar:PDCD10 Ensembl:ENSG00000114209 Genatlas:PDCD10 HGNC:8761 OMIM:609118 Reactome:Q9BUL8 SwissProt:Q9BUL8 PDCD10 programmed cell death 10 5q32 RP43 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha retinitis pigmentosa type 43 ClinVar:PDE6A Ensembl:ENSG00000132915 Genatlas:PDE6A HGNC:8785 IUPHAR:1312 OMIM:180071 Reactome:P16499 SwissProt:P16499 PDE6A phosphodiesterase 6A 4p16.3 CSNB3 CSNBAD2 RP40 congenital stationary night blindness 3, autosomal dominant rd1 rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta ClinVar:PDE6B Ensembl:ENSG00000133256 Genatlas:PDE6B HGNC:8786 IUPHAR:1313 OMIM:180072 Reactome:P35913 SwissProt:P35913 PDE6B phosphodiesterase 6B 4q12 CD140a GAS9 PDGFR2 ClinVar:PDGFRA Ensembl:ENSG00000134853 Genatlas:PDGFRA HGNC:8803 IUPHAR:1803 OMIM:173490 Reactome:P16234 SwissProt:P16234 PDGFRA platelet derived growth factor receptor alpha Xp22.12 E1alpha pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial ClinVar:PDHA1 Ensembl:ENSG00000131828 Genatlas:PDHA1 HGNC:8806 OMIM:300502 Reactome:P08559 SwissProt:P08559 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 3p14.3 E1beta PDHE1B ClinVar:PDHB Ensembl:ENSG00000168291 Genatlas:PDHB HGNC:8808 OMIM:179060 Reactome:P11177 SwissProt:P11177 PDHB pyruvate dehydrogenase E1 subunit beta 11p13 DLDBP E3BP OPDX PDX1 proX ClinVar:PDHX Ensembl:ENSG00000110435 Genatlas:PDHX HGNC:21350 OMIM:608769 Reactome:O00330 SwissProt:O00330 PDHX pyruvate dehydrogenase complex component X 13q12.2 GSF Glucose-sensitive factor IDX-1 IUF-1 Islet/duodenum homeobox-1 MODY4 PDX-1 STF-1 insulin upstream factor 1 somatostatin transcription factor 1 ClinVar:PDX1 Ensembl:ENSG00000139515 Genatlas:PDX1 HGNC:6107 OMIM:600733 Reactome:P52945 SwissProt:P52945 PDX1 pancreatic and duodenal homeobox 1 19q13.11 Xaa-Pro dipeptidase imidodipeptidase prolidase ClinVar:PEPD Ensembl:ENSG00000124299 Genatlas:PEPD HGNC:8840 IUPHAR:2389 OMIM:613230 SwissProt:P12955 PEPD peptidase D 7q21.2 ClinVar:PEX1 Ensembl:ENSG00000127980 Genatlas:PEX1 HGNC:8850 OMIM:602136 SwissProt:O43933 PEX1 peroxisomal biogenesis factor 1 1p36.32 RNF69 ClinVar:PEX10 Ensembl:ENSG00000157911 Genatlas:PEX10 HGNC:8851 OMIM:602859 Reactome:O60683 SwissProt:O60683 PEX10 peroxisomal biogenesis factor 10 17q12 ClinVar:PEX12 Ensembl:ENSG00000108733 Genatlas:PEX12 HGNC:8854 OMIM:601758 Reactome:O00623 SwissProt:O00623 PEX12 peroxisomal biogenesis factor 12 2p15 ClinVar:PEX13 Ensembl:ENSG00000162928 Genatlas:PEX13 HGNC:8855 OMIM:601789 Reactome:Q92968 SwissProt:Q92968 PEX13 peroxisomal biogenesis factor 13 1p36.22 ClinVar:PEX14 Ensembl:ENSG00000142655 Genatlas:PEX14 HGNC:8856 OMIM:601791 Reactome:O75381 SwissProt:O75381 PEX14 peroxisomal biogenesis factor 14 11p11.2 ClinVar:PEX16 Ensembl:ENSG00000121680 Genatlas:PEX16 HGNC:8857 OMIM:603360 Reactome:Q9Y5Y5 SwissProt:Q9Y5Y5 PEX16 peroxisomal biogenesis factor 16 1q23.2 D1S2223E HK33 PMP1 PMPI PXMP1 housekeeping gene, 33kD ClinVar:PEX19 Ensembl:ENSG00000162735 Genatlas:PEX19 HGNC:9713 OMIM:600279 Reactome:P40855 SwissProt:P40855 PEX19 peroxisomal biogenesis factor 19 22q11.21 FLJ20695 ClinVar:PEX26 Ensembl:ENSG00000215193 Genatlas:PEX26 HGNC:22965 OMIM:608666 Reactome:Q7Z412 SwissProt:Q7Z412 PEX26 peroxisomal biogenesis factor 26 6q24.2 ClinVar:PEX3 Ensembl:ENSG00000034693 Genatlas:PEX3 HGNC:8858 OMIM:603164 Reactome:P56589 SwissProt:P56589 PEX3 peroxisomal biogenesis factor 3 12p13.31 PTS1R peroxisomal import receptor 5 peroxisomal targeting signal 1 receptor ClinVar:PEX5 Ensembl:ENSG00000139197 Genatlas:PEX5 HGNC:9719 OMIM:600414 Reactome:P50542 SwissProt:P50542 PEX5 peroxisomal biogenesis factor 5 6p21.1 PAF-2 PXAAA1 ClinVar:PEX6 Ensembl:ENSG00000124587 Genatlas:PEX6 HGNC:8859 OMIM:601498 SwissProt:Q13608 PEX6 peroxisomal biogenesis factor 6 6q23.3 PTS2R RD Refsum disease ClinVar:PEX7 Ensembl:ENSG00000112357 Genatlas:PEX7 HGNC:8860 OMIM:601757 SwissProt:O00628 PEX7 peroxisomal biogenesis factor 7 12q13.11 PFK-1 PPP1R122 protein phosphatase 1, regulatory subunit 122 ClinVar:PFKM Ensembl:ENSG00000152556 Genatlas:PFKM HGNC:8877 OMIM:610681 Reactome:P08237 SwissProt:P08237 PFKM phosphofructokinase, muscle Xq21.1 ClinVar:PGK1 Ensembl:ENSG00000102144 Genatlas:PGK1 HGNC:8896 OMIM:311800 Reactome:P00558 SwissProt:P00558 PGK1 phosphoglycerate kinase 1 1p31.3 ClinVar:PGM1 Ensembl:ENSG00000079739 Genatlas:PGM1 HGNC:8905 OMIM:171900 Reactome:P36871 SwissProt:P36871 PGM1 phosphoglucomutase 1 Xp22.11 HPDR1 HYP1 PEX PHEX peptidase Phosphate-regulating neutral endopeptidase XLH ClinVar:PHEX Ensembl:ENSG00000102174 Genatlas:PHEX HGNC:8918 OMIM:300550 SwissProt:P78562 PHEX phosphate regulating endopeptidase X-linked BMD BVMD Best disease Best macular dystrophy Early-onset vitelliform macular dystrophy Juvenile-onset vitelliform macular dystrophy Polymorphic vitelline macular degeneration Vitelliform macular dystrophy type 2 Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. Orphanet ICD-10:H35.5 ICD-11:9B70 MONDO:0007931 OMIM:153700 UMLS:C2745945 Autosomal dominant Adolescent Childhood Denmark AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1243 Best vitelliform macular dystrophy ORPHA:1243 ICD-10:H35.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:9B70 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007931 E (Exact mapping: the two concepts are equivalent) OMIM:153700 E (Exact mapping: the two concepts are equivalent) UMLS:C2745945 E (Exact mapping: the two concepts are equivalent) This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Bicuspid aortic valve ORPHA:1244 Amish brittle hair syndrome Trichothiodystrophy type D This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy OMIM:234050 UMLS:C3495483 BIDS syndrome ORPHA:1245 OMIM:234050 E (Exact mapping: the two concepts are equivalent) UMLS:C3495483 E (Exact mapping: the two concepts are equivalent) Biemond syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934. Orphanet ICD-10:Q87.8 MONDO:0007226 OMIM:113400 UMLS:C0344467 Unknown Infancy Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1246 Historical entity Brachydactyly-nystagmus-cerebellar ataxia syndrome ORPHA:1246 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0007226 E (Exact mapping: the two concepts are equivalent) OMIM:113400 E (Exact mapping: the two concepts are equivalent) UMLS:C0344467 E (Exact mapping: the two concepts are equivalent) Bilharziasis A rare parasitic disease characterized by infection with trematodes of the genus <i>Schistosoma</i>. Humans become infected when larvae (cercariae) in infested freshwater penetrate the skin, potentially causing cercarial dermatitis. After a few weeks, eggs laid by the adult female worms living in blood vessels become trapped in body tissues, causing progressive organ damage due to inflammation, granuloma formation, and fibrosis. Acute schistosomiasis presents with fever, cough, headache, and urticaria, while chronic manifestations depend on the localization of the eggs and typically include abdominal pain, diarrhea, hepatosplenomegaly, blood in stool or urine, and dysuria, among others. Orphanet ICD-10:B65.0 ICD-10:B65.1 ICD-10:B65.2 ICD-10:B65.3 ICD-10:B65.8 ICD-10:B65.9 ICD-11:1F86 ICD-11:1F86.0 ICD-11:1F86.1 ICD-11:1F86.2 ICD-11:1F86.3 MONDO:0015254 MeSH:D012552 MedDRA:10039603 OMIM:181460 UMLS:C0036323 Not applicable All ages Africa AND has_point_prevalence_range : >1 / 1000 Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1247 Schistosomiasis ORPHA:1247 ICD-10:B65.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B65.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B65.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B65.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B65.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:B65.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F86 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F86.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F86.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F86.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F86.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015254 E (Exact mapping: the two concepts are equivalent) MeSH:D012552 E (Exact mapping: the two concepts are equivalent) MedDRA:10039603 E (Exact mapping: the two concepts are equivalent) OMIM:181460 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0036323 E (Exact mapping: the two concepts are equivalent) Binder syndrome Maxillonasal dysostosis A rare developmental anomaly characterized by midfacial hypoplasia affecting primarily the anterior part of the maxilla (premaxilla) and the nasal complex. Orphanet ICD-10:Q75.8 ICD-11:LD2H.Y MONDO:0007953 MeSH:C536036 MedDRA:10075843 OMIM:155050 UMLS:C0220692 Autosomal dominant Autosomal recessive Multigenic/multifactorial Neonatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1248 Maxillonasal dysplasia ORPHA:1248 ICD-10:Q75.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007953 E (Exact mapping: the two concepts are equivalent) MeSH:C536036 E (Exact mapping: the two concepts are equivalent) MedDRA:10075843 E (Exact mapping: the two concepts are equivalent) OMIM:155050 E (Exact mapping: the two concepts are equivalent) UMLS:C0220692 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Rare cerebrovascular dementia OBSOLETE: Binswanger disease ORPHA:1249 BSyn Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems. Orphanet ICD-10:Q82.8 ICD-11:4A01.31 MONDO:0008876 MeSH:D001816 MedDRA:10073032 OMIM:210900 UMLS:C0005859 Autosomal recessive Antenatal Neonatal Specific population AND has_birth_prevalence_average_value : 2.08 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=125 Bloom syndrome ORPHA:125 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:4A01.31 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008876 E (Exact mapping: the two concepts are equivalent) MeSH:D001816 E (Exact mapping: the two concepts are equivalent) MedDRA:10073032 E (Exact mapping: the two concepts are equivalent) OMIM:210900 E (Exact mapping: the two concepts are equivalent) UMLS:C0005859 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Blaichman syndrome ORPHA:1250 Richieri Costa-Guion Almeida-Rodini syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Schilbach-Rott syndrome Blepharofacioskeletal syndrome ORPHA:1251 Pashayan syndrome Pashayan-Pruzansky syndrome Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Orphanet ICD-10:Q87.0 MONDO:0007200 MeSH:C536303 OMIM:110050 UMLS:C0796197 Autosomal dominant X-linked dominant Childhood Worldwide AND has_cases/families_value : 3.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1252 Blepharonasofacial malformation syndrome ORPHA:1252 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0007200 E (Exact mapping: the two concepts are equivalent) MeSH:C536303 E (Exact mapping: the two concepts are equivalent) OMIM:110050 E (Exact mapping: the two concepts are equivalent) UMLS:C0796197 E (Exact mapping: the two concepts are equivalent) Blepharochalasis-double lip syndrome A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported. Orphanet ICD-10:Q87.0 ICD-11:LD27.Y MONDO:0007198 MeSH:C562742 OMIM:109900 UMLS:C0339085 Not applicable Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1253 Ascher syndrome ORPHA:1253 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007198 E (Exact mapping: the two concepts are equivalent) MeSH:C562742 E (Exact mapping: the two concepts are equivalent) OMIM:109900 E (Exact mapping: the two concepts are equivalent) UMLS:C0339085 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Jorgenson-Lenz syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Syndrome with synostosis or other joint formation defect OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome ORPHA:1256 OBSOLETE: Rodini-Richieri Costa syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome ORPHA:1258 A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982. Orphanet ICD-10:Q15.8 ICD-11:LA14.0Y MONDO:0007202 MeSH:C536236 OMIM:110150 UMLS:C4303549 Autosomal dominant Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1259 Historical entity Blepharoptosis-myopia-ectopia lentis syndrome ORPHA:1259 ICD-10:Q15.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA14.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007202 E (Exact mapping: the two concepts are equivalent) MeSH:C536236 E (Exact mapping: the two concepts are equivalent) OMIM:110150 E (Exact mapping: the two concepts are equivalent) UMLS:C4303549 E (Exact mapping: the two concepts are equivalent) BPES A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2). Orphanet ICD-10:Q10.3 ICD-11:LD21.Y MONDO:0007201 MeSH:C562419 MedDRA:10081258 OMIM:110100 UMLS:C0220663 Autosomal dominant Not applicable Antenatal Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=126 Blepharophimosis-ptosis-epicanthus inversus syndrome ORPHA:126 ICD-10:Q10.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD21.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007201 E (Exact mapping: the two concepts are equivalent) MeSH:C562419 E (Exact mapping: the two concepts are equivalent) MedDRA:10081258 E (Exact mapping: the two concepts are equivalent) OMIM:110100 E (Exact mapping: the two concepts are equivalent) UMLS:C0220663 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Familial sick sinus syndrome OBSOLETE: Sino-auricular heart block ORPHA:1260 Encephalopathy-intracerebral calcification-retinal degeneration syndrome Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. Orphanet ICD-10:Q04.8 MONDO:0009167 OMIM:225755 UMLS:C4518560 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1261 Historical entity Bonnemann-Meinecke-Reich syndrome ORPHA:1261 ICD-10:Q04.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0009167 E (Exact mapping: the two concepts are equivalent) OMIM:225755 E (Exact mapping: the two concepts are equivalent) UMLS:C4518560 E (Exact mapping: the two concepts are equivalent) A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MONDO:0007207 MeSH:C562993 OMIM:112300 UMLS:C0457014 Autosomal dominant Adult Worldwide AND has_cases/families_value : 26.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1262 Böök syndrome ORPHA:1262 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007207 E (Exact mapping: the two concepts are equivalent) MeSH:C562993 E (Exact mapping: the two concepts are equivalent) OMIM:112300 E (Exact mapping: the two concepts are equivalent) UMLS:C0457014 E (Exact mapping: the two concepts are equivalent) Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing. Orphanet ICD-10:Q87.1 ICD-11:LD24.E MONDO:0007208 MeSH:C536573 OMIM:112310 UMLS:C0432201 Not applicable Antenatal Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1263 Boomerang dysplasia ORPHA:1263 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.E - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007208 E (Exact mapping: the two concepts are equivalent) MeSH:C536573 E (Exact mapping: the two concepts are equivalent) OMIM:112310 E (Exact mapping: the two concepts are equivalent) UMLS:C0432201 E (Exact mapping: the two concepts are equivalent) Bork syndrome Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. Orphanet ICD-10:Q82.4 ICD-11:LD27.0Y MONDO:0008622 MeSH:C536576 OMIM:191482 UMLS:C1860605 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1264 Tricho-retino-dento-digital syndrome ORPHA:1264 ICD-10:Q82.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008622 E (Exact mapping: the two concepts are equivalent) MeSH:C536576 E (Exact mapping: the two concepts are equivalent) OMIM:191482 E (Exact mapping: the two concepts are equivalent) UMLS:C1860605 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Frank-Ter Haar syndrome Dermato-cardio-skeletal syndrome, Borrone type ORPHA:1266 Botulism is a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), including four clinical forms with different modes of acquisition. Orphanet ICD-10:A05.1 ICD-11:1A11 MONDO:0005498 MeSH:D001906 MedDRA:10006041 UMLS:C0006057 Not applicable All ages Austria AND has_annual_incidence_average_value : 0.026 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Denmark AND has_annual_incidence_average_value : 0.024 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.255 AND has_annual_incidence_range : 1-9 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.006 AND has_annual_incidence_range : <1 / 1 000 000 Hungary AND has_annual_incidence_average_value : 0.052 AND has_annual_incidence_range : <1 / 1 000 000 Ireland AND has_annual_incidence_average_value : 0.012 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.052 AND has_annual_incidence_range : <1 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.086 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.002 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.098 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.038 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000 Romania AND has_annual_incidence_average_value : 0.104 AND has_annual_incidence_range : 1-9 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 United States AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1267 Botulism ORPHA:1267 ICD-10:A05.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1A11 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0005498 E (Exact mapping: the two concepts are equivalent) MeSH:D001906 E (Exact mapping: the two concepts are equivalent) MedDRA:10006041 E (Exact mapping: the two concepts are equivalent) UMLS:C0006057 E (Exact mapping: the two concepts are equivalent) BFLS Intellectual disability-epilepsy-endocrine disorders syndrome Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes. Orphanet ICD-10:Q87.8 ICD-11:LD29 MONDO:0010537 MeSH:C536575 OMIM:301900 UMLS:C0265339 X-linked recessive Neonatal Worldwide AND has_cases/families_value : 50.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=127 Borjeson-Forssman-Lehmann syndrome ORPHA:127 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD29 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010537 E (Exact mapping: the two concepts are equivalent) MeSH:C536575 E (Exact mapping: the two concepts are equivalent) OMIM:301900 E (Exact mapping: the two concepts are equivalent) UMLS:C0265339 E (Exact mapping: the two concepts are equivalent) Bowen syndrome, Hutterite type A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet. Orphanet ICD-10:Q87.8 ICD-11:LD20.2 MONDO:0008879 MeSH:C537081 OMIM:211180 UMLS:C1859405 Autosomal recessive Antenatal Neonatal Specific population AND has_birth_prevalence_average_value : 281.0 AND has_birth_prevalence_range : >1 / 1000 Worldwide AND has_cases/families_value : 60.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1270 Bowen-Conradi syndrome ORPHA:1270 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD20.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008879 E (Exact mapping: the two concepts are equivalent) MeSH:C537081 E (Exact mapping: the two concepts are equivalent) OMIM:211180 E (Exact mapping: the two concepts are equivalent) UMLS:C1859405 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Zellweger syndrome OMIM:211200 UMLS:C1859404 Bowen syndrome ORPHA:1271 OMIM:211200 E (Exact mapping: the two concepts are equivalent) UMLS:C1859404 E (Exact mapping: the two concepts are equivalent) Brachycephaly-deafness-cataract-intellectual disability syndrome Brachycephaly-hearing loss-cataract-intellectual disability syndrome Fine-Lubinsky syndrome A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder. Orphanet ICD-10:Q87.8 MONDO:0011049 MeSH:C537933 OMIM:601088 UMLS:C0795941 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 18.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1272 Aymé-Gripp syndrome ORPHA:1272 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0011049 E (Exact mapping: the two concepts are equivalent) MeSH:C537933 E (Exact mapping: the two concepts are equivalent) OMIM:601088 E (Exact mapping: the two concepts are equivalent) UMLS:C0795941 E (Exact mapping: the two concepts are equivalent) Brachydactyly-joint dysplasia syndrome Liebenberg syndrome Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported. Orphanet ICD-10:Q73.8 ICD-11:LD26.1 MONDO:0008520 MeSH:C566090 OMIM:186550 UMLS:C1861313 Autosomal dominant Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 4.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1275 Brachydactyly-elbow wrist dysplasia syndrome ORPHA:1275 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008520 E (Exact mapping: the two concepts are equivalent) MeSH:C566090 E (Exact mapping: the two concepts are equivalent) OMIM:186550 E (Exact mapping: the two concepts are equivalent) UMLS:C1861313 E (Exact mapping: the two concepts are equivalent) Bilginturan brachydactyly Bilginturan syndrome Brachydactyly type E, with short stature and hypertension A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. Orphanet ICD-10:Q73.8 ICD-11:LD24.8Y MONDO:0007211 MeSH:C537095 OMIM:112410 UMLS:C1862170 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 10.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1276 Brachydactyly-arterial hypertension syndrome ORPHA:1276 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007211 E (Exact mapping: the two concepts are equivalent) MeSH:C537095 E (Exact mapping: the two concepts are equivalent) OMIM:112410 E (Exact mapping: the two concepts are equivalent) UMLS:C1862170 E (Exact mapping: the two concepts are equivalent) Stratton-Garcia-Young syndrome Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). Orphanet ICD-10:Q87.8 MONDO:0015259 UMLS:C4707567 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome ORPHA:1277 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015259 E (Exact mapping: the two concepts are equivalent) UMLS:C4707567 E (Exact mapping: the two concepts are equivalent) A rare dysostosis with brachydactyly with exstraskeletal manifestations characterized by hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further descriptions in the literature since 1992. Orphanet ICD-10:Q73.8 MONDO:0007214 OMIM:112450 UMLS:C4518542 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1278 Historical entity Brachydactyly-preaxial hallux varus syndrome ORPHA:1278 ICD-10:Q73.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0007214 E (Exact mapping: the two concepts are equivalent) OMIM:112450 E (Exact mapping: the two concepts are equivalent) UMLS:C4518542 E (Exact mapping: the two concepts are equivalent) Bothriocephalosis Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells). Orphanet ICD-10:B70.0 ICD-11:1F71 MONDO:0015260 MeSH:D004169 MedDRA:10013029 UMLS:C0012561 Not applicable All ages Europe AND has_point_prevalence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.88 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=128 Diphyllobothriasis ORPHA:128 ICD-10:B70.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1F71 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015260 E (Exact mapping: the two concepts are equivalent) MeSH:D004169 E (Exact mapping: the two concepts are equivalent) MedDRA:10013029 E (Exact mapping: the two concepts are equivalent) UMLS:C0012561 E (Exact mapping: the two concepts are equivalent) Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation. Orphanet ICD-10:L66.0 ICD-11:ED70.5Y MONDO:0015261 UMLS:C0086873 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=129 Pseudopelade of Brocq ORPHA:129 ICD-10:L66.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:ED70.5Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015261 E (Exact mapping: the two concepts are equivalent) UMLS:C0086873 E (Exact mapping: the two concepts are equivalent) BOD syndrome Senior syndrome A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. Orphanet ICD-10:Q87.1 MONDO:0007230 MeSH:C536242 OMIM:113477 UMLS:C1862082 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1292 Brachymorphism-onychodysplasia-dysphalangism syndrome ORPHA:1292 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0007230 E (Exact mapping: the two concepts are equivalent) MeSH:C536242 E (Exact mapping: the two concepts are equivalent) OMIM:113477 E (Exact mapping: the two concepts are equivalent) UMLS:C1862082 E (Exact mapping: the two concepts are equivalent) Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones. Orphanet MONDO:0015262 MeSH:C537098 MedDRA:10081832 UMLS:C0432228 Autosomal dominant Autosomal recessive Childhood Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1293 Brachyolmia Clinical group ORPHA:1293 MONDO:0015262 E (Exact mapping: the two concepts are equivalent) MeSH:C537098 E (Exact mapping: the two concepts are equivalent) MedDRA:10081832 E (Exact mapping: the two concepts are equivalent) UMLS:C0432228 E (Exact mapping: the two concepts are equivalent) A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986. Orphanet ICD-10:Q87.0 MONDO:0007231 OMIM:113480 UMLS:C4303989 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1295 Historical entity Brachytelephalangy-dysmorphism-Kallmann syndrome ORPHA:1295 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0007231 E (Exact mapping: the two concepts are equivalent) OMIM:113480 E (Exact mapping: the two concepts are equivalent) UMLS:C4303989 E (Exact mapping: the two concepts are equivalent) Branchial dysplasia-intellectual disability-inguinal hernia syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. There have been no further descriptions in the literature since 1990. Orphanet ICD-10:Q87.8 MONDO:0009507 MeSH:C538396 OMIM:245550 UMLS:C1855551 Unknown Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1296 Historical entity Lambert syndrome ORPHA:1296 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0009507 E (Exact mapping: the two concepts are equivalent) MeSH:C538396 E (Exact mapping: the two concepts are equivalent) OMIM:245550 E (Exact mapping: the two concepts are equivalent) UMLS:C1855551 E (Exact mapping: the two concepts are equivalent) BOFS A rare, dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present. Orphanet ICD-10:Q18.8 ICD-11:LD2F.1Y MONDO:0007235 OMIM:113620 UMLS:C0376524 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1297 Branchio-oculo-facial syndrome ORPHA:1297 ICD-10:Q18.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007235 E (Exact mapping: the two concepts are equivalent) OMIM:113620 E (Exact mapping: the two concepts are equivalent) UMLS:C0376524 E (Exact mapping: the two concepts are equivalent) BSG syndrome Elsahy-Waters syndrome Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MONDO:0008885 MeSH:C537084 OMIM:211380 UMLS:C0809936 Autosomal recessive X-linked dominant Neonatal Worldwide AND has_cases/families_value : 7.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1299 Branchioskeletogenital syndrome ORPHA:1299 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008885 E (Exact mapping: the two concepts are equivalent) MeSH:C537084 E (Exact mapping: the two concepts are equivalent) OMIM:211380 E (Exact mapping: the two concepts are equivalent) UMLS:C0809936 E (Exact mapping: the two concepts are equivalent) Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) biosynthesis deficiency, leading to central dopamine and serotonin deficiency, and characterized by infantile-onset neurological disease of variable severity ranging from mild forms with normal neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism. Orphanet ICD-10:E70.1 ICD-11:5C59.01 MONDO:0009863 MeSH:C535325 OMIM:261640 UMLS:C0878676 Autosomal recessive Infancy Neonatal Brazil AND has_birth_prevalence_average_value : 0.0854 AND has_birth_prevalence_range : <1 / 1 000 000 China AND has_birth_prevalence_average_value : 0.3094 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_range : <1 / 1 000 000 Hong Kong AND has_birth_prevalence_average_value : 2.5258 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=13 6-pyruvoyl-tetrahydropterin synthase deficiency Clinical subtype ORPHA:13 ICD-10:E70.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C59.01 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0009863 E (Exact mapping: the two concepts are equivalent) MeSH:C535325 E (Exact mapping: the two concepts are equivalent) OMIM:261640 E (Exact mapping: the two concepts are equivalent) UMLS:C0878676 E (Exact mapping: the two concepts are equivalent) Ventricular fibrillation, Brugada type A cardiac disorder characterized on electrocardiogram (ECG) by ST segment elevation with a coved aspect on the right precordial leads, and a clinical susceptibility to ventricular tachyarrhythmias and sudden death occurring in the absence of overt myocardial abnormalities. Orphanet ICD-10:I49.8 ICD-11:BC65.1 MONDO:0015263 MeSH:D053840 MedDRA:10059027 OMIM:601144 OMIM:611777 OMIM:611875 OMIM:611876 OMIM:612838 OMIM:613119 OMIM:613120 OMIM:613123 OMIM:616399 UMLS:C1142166 Autosomal dominant Not applicable Adult Childhood Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 South East Asia AND has_point_prevalence_average_value : 75.0 AND has_point_prevalence_range : 6-9 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=130 Brugada syndrome ORPHA:130 ICD-10:I49.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:BC65.1 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015263 E (Exact mapping: the two concepts are equivalent) MeSH:D053840 E (Exact mapping: the two concepts are equivalent) MedDRA:10059027 E (Exact mapping: the two concepts are equivalent) OMIM:601144 E (Exact mapping: the two concepts are equivalent) OMIM:611777 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611875 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611876 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:612838 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613119 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613120 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613123 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616399 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1142166 E (Exact mapping: the two concepts are equivalent) Facio-genito-popliteal syndrome Popliteal web syndrome A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. Orphanet ICD-10:Q87.2 ICD-11:LD26.4Y MONDO:0007334 OMIM:119500 UMLS:C5848052 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1300 Autosomal dominant popliteal pterygium syndrome ORPHA:1300 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007334 E (Exact mapping: the two concepts are equivalent) OMIM:119500 E (Exact mapping: the two concepts are equivalent) UMLS:C5848052 E (Exact mapping: the two concepts are equivalent) This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Young syndrome Bronchiectasis-oligospermia syndrome ORPHA:1301 BOOP Bronchiolitis obliterans organizing pneumonia COP A rare form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with nonspecific flu-like symptoms, as well as cough and dyspnea, and where no etiological agent is found. Orphanet ICD-10:J84.1 ICD-11:CB03.2 MONDO:0015264 MeSH:D018549 MedDRA:10011496 UMLS:C0242770 Not applicable Adolescent Adult Childhood Elderly Greece AND has_point_prevalence_average_value : 0.92 AND has_point_prevalence_range : 1-9 / 1 000 000 Iceland AND has_annual_incidence_average_value : 1.1 AND has_annual_incidence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 0.81 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1302 Cryptogenic organizing pneumonia ORPHA:1302 ICD-10:J84.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CB03.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015264 E (Exact mapping: the two concepts are equivalent) MeSH:D018549 E (Exact mapping: the two concepts are equivalent) MedDRA:10011496 E (Exact mapping: the two concepts are equivalent) UMLS:C0242770 E (Exact mapping: the two concepts are equivalent) Constrictive bronchiolitis Obliterative bronchiolitis A rare lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction. Orphanet ICD-10:J44.8 ICD-11:CA26.0 MedDRA:10029888 UMLS:C0006272 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1303 Bronchiolitis obliterans Clinical group ORPHA:1303 ICD-10:J44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:CA26.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10029888 E (Exact mapping: the two concepts are equivalent) UMLS:C0006272 E (Exact mapping: the two concepts are equivalent) Brucellosis is an anthropozoonotic infection, endemic in the Mediterranean region, the Middle East, Latin America and parts of Asia and Africa, that is caused by gram-negative coccobacilli of the genus <i>Brucella</i> transmitted through consumption of unpasteurized dairy products or through direct contact with infected animals, placentas or aborted fetuses. Brucellosis is characterized by fever, fatigue, malaise, headache, anorexia, weight loss, sweating, osteomuscular pain (joint and lumbar pain), and arthritis. Orphanet ICD-10:A23.0 ICD-10:A23.1 ICD-10:A23.2 ICD-10:A23.3 ICD-10:A23.8 ICD-10:A23.9 ICD-11:1B95 MONDO:0005683 MeSH:D002006 MedDRA:10006500 UMLS:C0006309 Not applicable All ages Austria AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Belgium AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Bulgaria AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 Croatia AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Czech Republic AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.09 AND has_annual_incidence_range : <1 / 1 000 000 Finland AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000 France AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 Germany AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Greece AND has_annual_incidence_average_value : 1.13 AND has_annual_incidence_range : 1-9 / 100 000 Ireland AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000 Lithuania AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Luxembourg AND has_annual_incidence_average_value : 0.03 AND has_annual_incidence_range : <1 / 1 000 000 Malta AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Norway AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Poland AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 0.35 AND has_annual_incidence_range : 1-9 / 1 000 000 Romania AND has_annual_incidence_average_value : 0.01 AND has_annual_incidence_range : <1 / 1 000 000 Slovakia AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Slovenia AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Spain AND has_annual_incidence_average_value : 0.12 AND has_annual_incidence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1304 Brucellosis ORPHA:1304 ICD-10:A23.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A23.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A23.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A23.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A23.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:A23.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:1B95 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0005683 E (Exact mapping: the two concepts are equivalent) MeSH:D002006 E (Exact mapping: the two concepts are equivalent) MedDRA:10006500 E (Exact mapping: the two concepts are equivalent) UMLS:C0006309 E (Exact mapping: the two concepts are equivalent) Brunner-Winter syndrome Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum FGLDS FS MMT MODED syndrome Microcephaly-digital anomalies-normal intelligence syndrome Microcephaly-intellectual disability-tracheoesophageal fistula syndrome Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome ODED syndrome Oculo-digito-esophageal-duodenal syndrome A rare genetic, congenital malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies (brachymesophanlangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs), mild learning deficit and short palpebral fissures. The two subtypes are clinically distinguished by the presence (type 1) or absence (type 2) gastrointestinal atresia. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MONDO:0015267 MeSH:C537734 OMIM:164280 OMIM:614326 UMLS:C0796068 Autosomal dominant Antenatal Neonatal Worldwide AND has_cases/families_value : 123.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1305 Feingold syndrome ORPHA:1305 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015267 E (Exact mapping: the two concepts are equivalent) MeSH:C537734 E (Exact mapping: the two concepts are equivalent) OMIM:164280 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614326 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0796068 E (Exact mapping: the two concepts are equivalent) NON RARE IN EUROPE: Disseminated dermatofibrosis with osteopoikilosis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Buschke-Ollendorff syndrome ORPHA:1306 10q24 microduplication syndrome Buttiens-Fryns syndrome The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. Orphanet ICD-10:Q92.3 ICD-11:LD41.90 MONDO:0009525 OMIM:246560 UMLS:C4302673 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 6.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1307 Distal limb deficiencies-micrognathia syndrome ORPHA:1307 ICD-10:Q92.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD41.90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0009525 E (Exact mapping: the two concepts are equivalent) OMIM:246560 E (Exact mapping: the two concepts are equivalent) UMLS:C4302673 E (Exact mapping: the two concepts are equivalent) OTCS Opitz C trigonocephaly Opitz trigonocephaly C syndrome Opitz trigonocephaly syndrome Trigonocephaly C syndrome C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. Orphanet ICD-10:Q87.8 ICD-11:LD24.GY MONDO:0008893 MeSH:C537418 MedDRA:10083975 OMIM:211750 UMLS:C0796095 Not applicable Unknown Antenatal Neonatal Europe AND has_point_prevalence_average_value : 0.11 AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1308 C syndrome ORPHA:1308 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.GY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008893 E (Exact mapping: the two concepts are equivalent) MeSH:C537418 E (Exact mapping: the two concepts are equivalent) MedDRA:10083975 E (Exact mapping: the two concepts are equivalent) OMIM:211750 E (Exact mapping: the two concepts are equivalent) UMLS:C0796095 E (Exact mapping: the two concepts are equivalent) Cacchi-Ricci disease MSK Precalicial canalicular ectasia A rare renal tract malformation characterized by dilated malformation of the medullary collecting ducts (typically bilateral), and associated with stone formation, renal colic, hematuria, urinary tract infection, nephrocalcinosis, calcium nephrolithiasis, pyelonephritis, hypercalciuria and hypocitraturia. The disease is associated with abnormal distal tubular functions. Orphanet ICD-10:Q61.5 ICD-11:LB30.8 MONDO:0015268 MeSH:D007691 MedDRA:10027104 UMLS:C0022681 Autosomal dominant Not applicable Adult Childhood Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1309 Medullary sponge kidney ORPHA:1309 ICD-10:Q61.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LB30.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015268 E (Exact mapping: the two concepts are equivalent) MeSH:D007691 E (Exact mapping: the two concepts are equivalent) MedDRA:10027104 E (Exact mapping: the two concepts are equivalent) UMLS:C0022681 E (Exact mapping: the two concepts are equivalent) BCS A rare vascular liver disease characterized by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Orphanet ICD-10:I82.0 ICD-11:DB98.5 MONDO:0010947 MeSH:D006502 MedDRA:10006537 OMIM:600880 UMLS:C0856761 Multigenic/multifactorial All ages Denmark AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Italy AND has_annual_incidence_average_value : 0.21 AND has_annual_incidence_range : 1-9 / 1 000 000 Japan AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000 Japan AND has_point_prevalence_average_value : 0.24 AND has_point_prevalence_range : 1-9 / 1 000 000 Korea, Republic of AND has_annual_incidence_average_value : 0.087 AND has_annual_incidence_range : <1 / 1 000 000 Korea, Republic of AND has_point_prevalence_average_value : 0.529 AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 Sweden AND has_point_prevalence_average_value : 0.14 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=131 Budd-Chiari syndrome ORPHA:131 ICD-10:I82.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:DB98.5 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0010947 E (Exact mapping: the two concepts are equivalent) MeSH:D006502 E (Exact mapping: the two concepts are equivalent) MedDRA:10006537 E (Exact mapping: the two concepts are equivalent) OMIM:600880 E (Exact mapping: the two concepts are equivalent) UMLS:C0856761 E (Exact mapping: the two concepts are equivalent) Infantile cortical hyperostosis Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described. Orphanet ICD-10:M89.8 ICD-11:LD24.1Y MONDO:0007244 MeSH:D006958 MedDRA:10073206 OMIM:114000 UMLS:C0020497 Autosomal dominant Unknown Antenatal Childhood Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1310 Caffey disease ORPHA:1310 ICD-10:M89.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007244 E (Exact mapping: the two concepts are equivalent) MeSH:D006958 E (Exact mapping: the two concepts are equivalent) MedDRA:10073206 E (Exact mapping: the two concepts are equivalent) OMIM:114000 E (Exact mapping: the two concepts are equivalent) UMLS:C0020497 E (Exact mapping: the two concepts are equivalent) A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:G93.8 MONDO:0008981 MeSH:C535357 OMIM:215480 UMLS:C1859092 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1313 Historical entity Infantile choroidocerebral calcification syndrome ORPHA:1313 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0008981 E (Exact mapping: the two concepts are equivalent) MeSH:C535357 E (Exact mapping: the two concepts are equivalent) OMIM:215480 E (Exact mapping: the two concepts are equivalent) UMLS:C1859092 E (Exact mapping: the two concepts are equivalent) Bilateral symmetrical thalamic gliosis Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness. Orphanet ICD-10:G93.8 MONDO:0015269 UMLS:C4304914 Not applicable Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1314 Symmetrical thalamic calcifications ORPHA:1314 ICD-10:G93.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015269 E (Exact mapping: the two concepts are equivalent) UMLS:C4304914 E (Exact mapping: the two concepts are equivalent) CAMAK syndrome Cataract-microcephaly-arthrogryposis-kyphosis syndrome Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to COFS syndrome OMIM:212540 UMLS:C1859312 CAMFAK syndrome ORPHA:1317 OMIM:212540 E (Exact mapping: the two concepts are equivalent) UMLS:C1859312 E (Exact mapping: the two concepts are equivalent) Cumming syndrome Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. Orphanet ICD-10:Q87.8 ICD-11:LD24.C MONDO:0008896 MeSH:C537966 OMIM:211890 UMLS:C1859371 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1318 Campomelia, Cumming type ORPHA:1318 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008896 E (Exact mapping: the two concepts are equivalent) MeSH:C537966 E (Exact mapping: the two concepts are equivalent) OMIM:211890 E (Exact mapping: the two concepts are equivalent) UMLS:C1859371 E (Exact mapping: the two concepts are equivalent) Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. Orphanet ICD-10:Q74.8 MONDO:0007249 MeSH:C537967 OMIM:114150 UMLS:C1861963 Autosomal dominant Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1319 Historical entity Camptobrachydactyly ORPHA:1319 ICD-10:Q74.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0007249 E (Exact mapping: the two concepts are equivalent) MeSH:C537967 E (Exact mapping: the two concepts are equivalent) OMIM:114150 E (Exact mapping: the two concepts are equivalent) UMLS:C1861963 E (Exact mapping: the two concepts are equivalent) Hereditary pseudocholinesterase deficiency Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency. Orphanet ICD-10:E88.0 ICD-11:5C59.Y MONDO:0015270 MeSH:C537417 MedDRA:10062674 OMIM:617936 UMLS:C5880943 Autosomal recessive Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=132 Hereditary butyrylcholinesterase deficiency ORPHA:132 ICD-10:E88.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). ICD-11:5C59.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015270 E (Exact mapping: the two concepts are equivalent) MeSH:C537417 E (Exact mapping: the two concepts are equivalent) MedDRA:10062674 E (Exact mapping: the two concepts are equivalent) OMIM:617936 E (Exact mapping: the two concepts are equivalent) UMLS:C5880943 E (Exact mapping: the two concepts are equivalent) Idiopathic camptocormism Idiopathic progressive lumbar kyphosis Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology. Orphanet ICD-10:M43.8 MONDO:0015271 MeSH:C537968 MedDRA:10069646 UMLS:C0264162 Not applicable Adult Elderly Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1320 Idiopathic camptocormia ORPHA:1320 ICD-10:M43.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015271 E (Exact mapping: the two concepts are equivalent) MeSH:C537968 E (Exact mapping: the two concepts are equivalent) MedDRA:10069646 E (Exact mapping: the two concepts are equivalent) UMLS:C0264162 E (Exact mapping: the two concepts are equivalent) Goodman camptodactyly An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. Orphanet ICD-10:Q87.2 MONDO:0008900 MeSH:C537287 OMIM:211930 UMLS:C5848327 Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1321 Historical entity Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome ORPHA:1321 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0008900 E (Exact mapping: the two concepts are equivalent) MeSH:C537287 E (Exact mapping: the two concepts are equivalent) OMIM:211930 E (Exact mapping: the two concepts are equivalent) UMLS:C5848327 E (Exact mapping: the two concepts are equivalent) 10q26.13 CD332 CEK3 Crouzon syndrome ECT1 K-SAM Pfeiffer syndrome TK14 TK25 ClinVar:FGFR2 Ensembl:ENSG00000066468 Genatlas:FGFR2 HGNC:3689 IUPHAR:1809 OMIM:176943 Reactome:P21802 SwissProt:P21802 FGFR2 fibroblast growth factor receptor 2 2q14.3 BTF2 GTF2H RAD25 Ssl2 TFIIH XPB xeroderma pigmentosum group B complementing ClinVar:ERCC3 Ensembl:ENSG00000163161 Genatlas:ERCC3 HGNC:3435 OMIM:133510 Reactome:P19447 SwissProt:P19447 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit 13q33.1 Cockayne syndrome ClinVar:ERCC5 Ensembl:ENSG00000134899 Genatlas:ERCC5 HGNC:3437 OMIM:133530 Reactome:P28715 SwissProt:P28715 ERCC5 ERCC excision repair 5, endonuclease Xq12 AIS HUMARA Kennedy disease NR3C4 SMAX1 testicular feminization ClinVar:AR Ensembl:ENSG00000169083 Genatlas:AR HGNC:644 IUPHAR:628 OMIM:313700 Reactome:P10275 SwissProt:P10275 AR androgen receptor Rozin camptodactyly syndrome A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Orphanet ICD-10:Q87.0 MONDO:0011262 MeSH:C535876 OMIM:602612 UMLS:C2931051 Autosomal dominant Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1323 Camptodactyly-joint contractures-facial skeletal defects syndrome ORPHA:1323 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0011262 E (Exact mapping: the two concepts are equivalent) MeSH:C535876 E (Exact mapping: the two concepts are equivalent) OMIM:602612 E (Exact mapping: the two concepts are equivalent) UMLS:C2931051 E (Exact mapping: the two concepts are equivalent) Familial streblodactyly with amino-aciduria Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. Orphanet ICD-10:Q68.1 MONDO:0015272 MeSH:C537972 UMLS:C4518792 Autosomal dominant Infancy Worldwide AND has_cases/families_value : 17.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1325 Historical entity Camptodactyly-taurinuria syndrome ORPHA:1325 ICD-10:Q68.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015272 E (Exact mapping: the two concepts are equivalent) MeSH:C537972 E (Exact mapping: the two concepts are equivalent) UMLS:C4518792 E (Exact mapping: the two concepts are equivalent) Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:Q87.1 MONDO:0008899 MeSH:C537971 OMIM:211920 UMLS:C2931680 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1326 Historical entity Camptodactyly syndrome, Guadalajara type 2 ORPHA:1326 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0008899 E (Exact mapping: the two concepts are equivalent) MeSH:C537971 E (Exact mapping: the two concepts are equivalent) OMIM:211920 E (Exact mapping: the two concepts are equivalent) UMLS:C2931680 E (Exact mapping: the two concepts are equivalent) Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Orphanet ICD-10:Q87.1 MONDO:0008898 MeSH:C537970 OMIM:211910 UMLS:C1859359 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1327 Camptodactyly syndrome, Guadalajara type 1 ORPHA:1327 ICD-10:Q87.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0008898 E (Exact mapping: the two concepts are equivalent) MeSH:C537970 E (Exact mapping: the two concepts are equivalent) OMIM:211910 E (Exact mapping: the two concepts are equivalent) UMLS:C1859359 E (Exact mapping: the two concepts are equivalent) Progressive diaphyseal dysplasia Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Orphanet ICD-10:Q78.3 ICD-11:LD24.1Y MONDO:0007542 MeSH:D003966 MedDRA:10087147 OMIM:131300 UMLS:C0011989 Autosomal dominant Adolescent Adult Childhood Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1328 Camurati-Engelmann disease ORPHA:1328 ICD-10:Q78.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:LD24.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007542 E (Exact mapping: the two concepts are equivalent) MeSH:D003966 E (Exact mapping: the two concepts are equivalent) MedDRA:10087147 E (Exact mapping: the two concepts are equivalent) OMIM:131300 E (Exact mapping: the two concepts are equivalent) UMLS:C0011989 E (Exact mapping: the two concepts are equivalent) CAVC Complete AVSD Complete atrioventricular canal Complete atrioventricular canal defect Complete atrioventricular septal defect with atrial and ventricular components A rare, congenital cardiac anomaly characterized by a common atrioventricular junction with a common AV valve, an interatrial communication just above the common AV valve (ostium primum defect), a posterior interventricular communication (inlet VSD), that results in shunting at both the atrial and ventricular level. Morphologically, the common atrioventricular valve has 4 or 5 leaflets including superior and inferior bridging leaflets with a single annulus. Orphanet ICD-10:Q21.2 ICD-11:LA87.43 MONDO:0015273 UMLS:C0344787 Not applicable Infancy Neonatal Europe AND has_birth_prevalence_average_value : 20.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1329 Complete atrioventricular septal defect ORPHA:1329 ICD-10:Q21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:LA87.43 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015273 E (Exact mapping: the two concepts are equivalent) UMLS:C0344787 E (Exact mapping: the two concepts are equivalent) Berylliosis Chronic berylliosis Chronic beryllium lung disease A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea. Orphanet ICD-10:J63.2 ICD-11:CA60.6 MONDO:0015274 MeSH:D001607 MedDRA:10004485 UMLS:C0221052 Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=133 Chronic beryllium disease ORPHA:133 ICD-10:J63.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:CA60.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015274 E (Exact mapping: the two concepts are equivalent) MeSH:D001607 E (Exact mapping: the two concepts are equivalent) MedDRA:10004485 E (Exact mapping: the two concepts are equivalent) UMLS:C0221052 E (Exact mapping: the two concepts are equivalent) PAVC Partial AVSD Partial atrioventricular canal defect A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (''cleft''). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum. Orphanet ICD-10:Q21.2 ICD-11:LA87.40 MONDO:0015275 MeSH:C536112 UMLS:C0344735 Not applicable All ages Europe AND has_birth_prevalence_average_value : 20.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1330 Partial atrioventricular septal defect ORPHA:1330 ICD-10:Q21.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA87.40 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015275 E (Exact mapping: the two concepts are equivalent) MeSH:C536112 E (Exact mapping: the two concepts are equivalent) UMLS:C0344735 E (Exact mapping: the two concepts are equivalent) Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents. Orphanet ICD-10:C61 ICD-11:2C82.Y MONDO:0700275 MeSH:C537243 OMIM:176807 OMIM:300147 OMIM:300704 OMIM:301120 OMIM:601518 OMIM:602759 OMIM:603688 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 OMIM:614731 UMLS:C2931456 Not applicable Adult United States AND has_annual_incidence_average_value : 9.4 AND has_annual_incidence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1331 Familial prostate cancer ORPHA:1331 ICD-10:C61 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2C82.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0700275 E (Exact mapping: the two concepts are equivalent) MeSH:C537243 E (Exact mapping: the two concepts are equivalent) OMIM:176807 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:300147 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:300704 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:301120 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601518 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:602759 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:603688 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608656 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:608658 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609299 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:609558 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610321 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610997 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611100 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611868 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611928 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611955 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611958 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:611959 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614731 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2931456 E (Exact mapping: the two concepts are equivalent) MTC Medullary thyroid carcinoma (MTC) is developed from thyroid C cells that secrete calcitonin (CT). Orphanet ICD-10:C73 ICD-11:2D10.4 MONDO:0015277 MeSH:C536914 MedDRA:10027101 UMLS:C0238462 Not applicable Adult Europe AND has_annual_incidence_average_value : 0.22 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_annual_incidence_average_value : 0.17 AND has_annual_incidence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1332 Medullary thyroid carcinoma ORPHA:1332 ICD-10:C73 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:2D10.4 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015277 E (Exact mapping: the two concepts are equivalent) MeSH:C536914 E (Exact mapping: the two concepts are equivalent) MedDRA:10027101 E (Exact mapping: the two concepts are equivalent) UMLS:C0238462 E (Exact mapping: the two concepts are equivalent) Familial pancreatic cancer Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives. Orphanet ICD-10:C25 ICD-11:2C10.Z MONDO:0015278 MeSH:C535837 OMIM:260350 OMIM:606856 OMIM:613347 OMIM:613348 OMIM:614320 UMLS:C2931038 Autosomal dominant Multigenic/multifactorial Adult Europe AND has_point_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1333 Familial pancreatic carcinoma ORPHA:1333 ICD-10:C25 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2C10.Z - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015278 E (Exact mapping: the two concepts are equivalent) MeSH:C535837 E (Exact mapping: the two concepts are equivalent) OMIM:260350 NTBT (ORPHAcode is narrower than the targeted code used to represent it) OMIM:606856 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613347 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613348 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:614320 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C2931038 E (Exact mapping: the two concepts are equivalent) CMC A rare primary immunodeficiency characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen <i>Candida albicans</i>. Orphanet ICD-10:B37.2 ICD-11:1F23.14 MONDO:0015279 MeSH:D002178 MedDRA:10009007 OMIM:114580 OMIM:247650 OMIM:252250 OMIM:607644 OMIM:613108 OMIM:613953 OMIM:613956 OMIM:615527 OMIM:616445 UMLS:C0006845 Autosomal dominant Autosomal recessive Childhood Infancy Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1334 Chronic mucocutaneous candidiasis ORPHA:1334 ICD-10:B37.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1F23.14 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015279 E (Exact mapping: the two concepts are equivalent) MeSH:D002178 E (Exact mapping: the two concepts are equivalent) MedDRA:10009007 E (Exact mapping: the two concepts are equivalent) OMIM:114580 E (Exact mapping: the two concepts are equivalent) OMIM:247650 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:252250 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:607644 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613108 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613953 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:613956 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615527 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:616445 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0006845 E (Exact mapping: the two concepts are equivalent) 5q13.2 BCD541 GEMIN1 SMA1 SMA2 SMA3 SMNT TDRD16A gemin-1 tudor domain containing 16A ClinVar:SMN1 Ensembl:ENSG00000172062 Genatlas:SMN1 HGNC:11117 OMIM:600354 Reactome:Q16637 SwissProt:Q16637 SMN1 survival of motor neuron 1, telomeric Cantrell deformity Cantrell syndrome Thoraco-abdominal syndrome Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC. Orphanet ICD-10:Q89.7 ICD-11:LD2F.1Y MONDO:0010742 MeSH:D058502 OMIM:313850 UMLS:C0559483 Not applicable Antenatal Neonatal Europe AND has_birth_prevalence_average_value : 0.55 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1335 Pentalogy of Cantrell ORPHA:1335 ICD-10:Q89.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010742 E (Exact mapping: the two concepts are equivalent) MeSH:D058502 E (Exact mapping: the two concepts are equivalent) OMIM:313850 E (Exact mapping: the two concepts are equivalent) UMLS:C0559483 E (Exact mapping: the two concepts are equivalent) Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993. Orphanet ICD-10:Q82.8 MONDO:0007757 MeSH:C564172 OMIM:144190 UMLS:C1840428 Autosomal dominant Adolescent Childhood Infancy Worldwide AND has_cases/families_value : 10.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1336 Hyperkeratosis-hyperpigmentation syndrome ORPHA:1336 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0007757 E (Exact mapping: the two concepts are equivalent) MeSH:C564172 E (Exact mapping: the two concepts are equivalent) OMIM:144190 E (Exact mapping: the two concepts are equivalent) UMLS:C1840428 E (Exact mapping: the two concepts are equivalent) Ostravik-Lindemann-Solberg syndrome A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. Orphanet ICD-10:Q87.8 MONDO:0009008 MeSH:C535849 OMIM:217085 UMLS:C2931046 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1338 Heart defect-tongue hamartoma-polysyndactyly syndrome ORPHA:1338 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0009008 E (Exact mapping: the two concepts are equivalent) MeSH:C535849 E (Exact mapping: the two concepts are equivalent) OMIM:217085 E (Exact mapping: the two concepts are equivalent) UMLS:C2931046 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Grosse syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Cranioacrofacial syndrome ORPHA:1339 3-ketothiolase deficiency 3-oxothiolase deficiency Alpha methylacetoacetic aciduria Alpha-methyl-acetoacetyl-CoA thiolase deficiency Mitochondrial acetoacetyl-coenzyme A thiolase deficiency T2 deficiency A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence. Orphanet ICD-10:E71.1 ICD-11:5C50.DY MONDO:0008760 MeSH:C535434 MedDRA:10067728 OMIM:203750 UMLS:C1536500 Autosomal recessive Childhood Infancy Neonatal Australia AND has_birth_prevalence_average_value : 0.72 AND has_birth_prevalence_range : 1-9 / 1 000 000 China AND has_birth_prevalence_average_value : 0.98 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.43 AND has_birth_prevalence_range : 1-9 / 1 000 000 Viet Nam AND has_birth_prevalence_average_value : 0.53 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=134 Beta-ketothiolase deficiency ORPHA:134 ICD-10:E71.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.DY - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008760 E (Exact mapping: the two concepts are equivalent) MeSH:C535434 E (Exact mapping: the two concepts are equivalent) MedDRA:10067728 E (Exact mapping: the two concepts are equivalent) OMIM:203750 E (Exact mapping: the two concepts are equivalent) UMLS:C1536500 E (Exact mapping: the two concepts are equivalent) CFC syndrome A rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), neurological manifestations (hypotonia, seizures), failure to thrive and intellectual disability. Orphanet ICD-10:Q87.8 ICD-11:LD27.0Y MONDO:0015280 MeSH:C535579 MedDRA:10082805 OMIM:115150 OMIM:615278 OMIM:615279 OMIM:615280 UMLS:C1275081 Autosomal dominant Antenatal Neonatal Japan AND has_point_prevalence_average_value : 0.12 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 300.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1340 Cardiofaciocutaneous syndrome ORPHA:1340 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015280 E (Exact mapping: the two concepts are equivalent) MeSH:C535579 E (Exact mapping: the two concepts are equivalent) MedDRA:10082805 E (Exact mapping: the two concepts are equivalent) OMIM:115150 E (Exact mapping: the two concepts are equivalent) OMIM:615278 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615279 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615280 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1275081 E (Exact mapping: the two concepts are equivalent) Atriodigital dysplasia type 3 Cardiomelic syndrome type 3 Heart-hand syndrome, Spanish type Heart-limb syndrome type 3 A rare multiple congenital anomalies/dysmorphic syndrome characterized by cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, affecting principally the middle phalanges of both hands, in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. There have been no further descriptions in the literature since 1980. Orphanet ICD-10:Q87.2 ICD-11:LD2F.1Y MONDO:0007702 MeSH:C535853 OMIM:140450 UMLS:C1841657 Neonatal Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1342 Historical entity Heart-hand syndrome type 3 ORPHA:1342 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0007702 E (Exact mapping: the two concepts are equivalent) MeSH:C535853 E (Exact mapping: the two concepts are equivalent) OMIM:140450 E (Exact mapping: the two concepts are equivalent) UMLS:C1841657 E (Exact mapping: the two concepts are equivalent) Isolated atrial cardiomyopathy with heart block A rare cardiac rhythm disease characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves. Orphanet ICD-10:I45.5 ICD-11:BC80.Y MONDO:0015281 MedDRA:10087237 OMIM:108770 OMIM:615745 UMLS:C0541782 Autosomal dominant Not applicable Adult Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1344 Isolated atrial standstill ORPHA:1344 ICD-10:I45.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC80.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015281 E (Exact mapping: the two concepts are equivalent) MedDRA:10087237 E (Exact mapping: the two concepts are equivalent) OMIM:108770 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:615745 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0541782 E (Exact mapping: the two concepts are equivalent) Krasnow-Qazi syndrome A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. Orphanet ICD-10:I42.0 ICD-11:BC43.0 MONDO:0015282 MeSH:C537616 UMLS:C2931548 Autosomal recessive Adolescent Adult Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1345 Historical entity Cardiomyopathy-cataract-hip spine disease syndrome ORPHA:1345 ICD-10:I42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC43.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015282 E (Exact mapping: the two concepts are equivalent) MeSH:C537616 E (Exact mapping: the two concepts are equivalent) UMLS:C2931548 E (Exact mapping: the two concepts are equivalent) Maternally-inherited cardiomyopathy and deafness mtDNA-related cardiomyopathy and deafness mtDNA-related cardiomyopathy and hearing loss tRNA-LYS-related cardiomyopathy-hearing loss syndrome A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance. Orphanet ICD-10:E88.8 ICD-11:5D0Y MONDO:0015283 UMLS:C4510409 Mitochondrial inheritance Adult Childhood Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1349 Mitochondrial DNA-related cardiomyopathy and hearing loss ORPHA:1349 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015283 E (Exact mapping: the two concepts are equivalent) UMLS:C4510409 E (Exact mapping: the two concepts are equivalent) Childhood ataxia with diffuse central nervous system hypomyelination Leukoencephalopathy with vanishing white matter Myelinosis centralis diffusa A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect. Orphanet ICD-10:E75.2 ICD-11:8A44.3 MONDO:0800448 OMIM:603896 OMIM:615889 OMIM:620312 OMIM:620313 OMIM:620314 OMIM:620315 UMLS:C1858991 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 148.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=135 CACH syndrome ORPHA:135 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8A44.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0800448 E (Exact mapping: the two concepts are equivalent) OMIM:603896 E (Exact mapping: the two concepts are equivalent) OMIM:615889 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620312 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620313 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620314 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:620315 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1858991 E (Exact mapping: the two concepts are equivalent) Atriodigital dysplasia type 2 Tabatznik syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). There have been no further descriptions in the literature since 1990. Orphanet ICD-10:Q87.2 ICD-11:LD2F.1Y MONDO:0015284 MeSH:C536784 UMLS:C2931323 Infancy Neonatal Worldwide AND has_cases/families_value : 2.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1350 Historical entity Heart-hand syndrome type 2 ORPHA:1350 ICD-10:Q87.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015284 E (Exact mapping: the two concepts are equivalent) MeSH:C536784 E (Exact mapping: the two concepts are equivalent) UMLS:C2931323 E (Exact mapping: the two concepts are equivalent) Houlston-Ironton-Temple syndrome A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Orphanet ICD-10:Q87.8 ICD-11:LD2F.1Y MONDO:0010825 OMIM:600123 UMLS:C4706259 Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome ORPHA:1352 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0010825 E (Exact mapping: the two concepts are equivalent) OMIM:600123 E (Exact mapping: the two concepts are equivalent) UMLS:C4706259 E (Exact mapping: the two concepts are equivalent) A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Orphanet ICD-11:LD2F.1Y MONDO:0008917 MeSH:C535850 OMIM:212135 UMLS:C1859327 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1354 Historical entity Heart defects-limb shortening syndrome ORPHA:1354 ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0008917 E (Exact mapping: the two concepts are equivalent) MeSH:C535850 E (Exact mapping: the two concepts are equivalent) OMIM:212135 E (Exact mapping: the two concepts are equivalent) UMLS:C1859327 E (Exact mapping: the two concepts are equivalent) Sonoda syndrome A very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. Orphanet ICD-10:Q87.8 MONDO:0010039 MeSH:C536680 OMIM:270460 UMLS:C0796162 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1355 Congenital heart defect-round face-developmental delay syndrome ORPHA:1355 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0010039 E (Exact mapping: the two concepts are equivalent) MeSH:C536680 E (Exact mapping: the two concepts are equivalent) OMIM:270460 E (Exact mapping: the two concepts are equivalent) UMLS:C0796162 E (Exact mapping: the two concepts are equivalent) Myopathy-Moebius-Robin syndrome Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay. Orphanet ICD-10:Q87.0 ICD-11:LD2F.1Y MONDO:0031415 MeSH:C536102 OMIM:254940 OMIM:619941 UMLS:C1850746 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 20.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1358 Carey-Fineman-Ziter syndrome ORPHA:1358 ICD-10:Q87.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2F.1Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0031415 E (Exact mapping: the two concepts are equivalent) MeSH:C536102 E (Exact mapping: the two concepts are equivalent) OMIM:254940 E (Exact mapping: the two concepts are equivalent) OMIM:619941 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1850746 E (Exact mapping: the two concepts are equivalent) Carney syndrome Myxoma-spotty pigmentation-endocrine overactivity syndrome A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors. Orphanet ICD-10:D44.8 ICD-11:5A70.Y MONDO:0015285 MeSH:D056733 MedDRA:10076601 OMIM:160980 OMIM:605244 OMIM:610489 UMLS:C0406810 Autosomal dominant Infancy Neonatal Worldwide AND has_cases/families_value : 750.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1359 Carney complex ORPHA:1359 ICD-10:D44.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5A70.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015285 E (Exact mapping: the two concepts are equivalent) MeSH:D056733 E (Exact mapping: the two concepts are equivalent) MedDRA:10076601 E (Exact mapping: the two concepts are equivalent) OMIM:160980 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:605244 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:610489 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C0406810 E (Exact mapping: the two concepts are equivalent) CADASIL Hereditary multi-infarct dementia CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients. Orphanet ICD-10:I67.8 ICD-11:8B22.C0 MONDO:0000914 MeSH:D046589 MedDRA:10065551 OMIM:125310 UMLS:C0751587 Autosomal dominant Adult Europe AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy ORPHA:136 ICD-10:I67.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B22.C0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0000914 E (Exact mapping: the two concepts are equivalent) MeSH:D046589 E (Exact mapping: the two concepts are equivalent) MedDRA:10065551 E (Exact mapping: the two concepts are equivalent) OMIM:125310 E (Exact mapping: the two concepts are equivalent) UMLS:C0751587 E (Exact mapping: the two concepts are equivalent) A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms. Orphanet ICD-10:E70.8 ICD-11:5C50.F1 MONDO:0008921 OMIM:212200 UMLS:C5700357 Autosomal recessive Infancy Worldwide AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 24.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1361 Carnosinase deficiency ORPHA:1361 ICD-10:E70.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.F1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008921 E (Exact mapping: the two concepts are equivalent) OMIM:212200 E (Exact mapping: the two concepts are equivalent) UMLS:C5700357 E (Exact mapping: the two concepts are equivalent) Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia Cataract-alopecia-sclerodactyly syndrome PPK-CA, Wallis type Palmoplantar keratoderma and congenital alopecia, Wallis type Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. Orphanet ICD-10:Q82.8 ICD-10:Q84.0 ICD-11:LD27.0Y MONDO:0008923 MeSH:C535336 OMIM:212360 UMLS:C1859316 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia ORPHA:1366 ICD-10:Q82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:Q84.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.0Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008923 E (Exact mapping: the two concepts are equivalent) MeSH:C535336 E (Exact mapping: the two concepts are equivalent) OMIM:212360 E (Exact mapping: the two concepts are equivalent) UMLS:C1859316 E (Exact mapping: the two concepts are equivalent) Cataract-ataxia-hearing loss syndrome A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. Orphanet ICD-10:G11.2 ICD-11:LD2H.Y MONDO:0008928 MeSH:C538283 OMIM:212710 UMLS:C0796123 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1368 Historical entity Cataract-ataxia-deafness syndrome ORPHA:1368 ICD-10:G11.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2H.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008928 E (Exact mapping: the two concepts are equivalent) MeSH:C538283 E (Exact mapping: the two concepts are equivalent) OMIM:212710 E (Exact mapping: the two concepts are equivalent) UMLS:C0796123 E (Exact mapping: the two concepts are equivalent) Sengers syndrome Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. Orphanet ICD-10:Q87.8 ICD-11:5C53.Y MONDO:0008922 MeSH:C538280 OMIM:212350 OMIM:615418 UMLS:C1859317 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 40.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome ORPHA:1369 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008922 E (Exact mapping: the two concepts are equivalent) MeSH:C538280 E (Exact mapping: the two concepts are equivalent) OMIM:212350 E (Exact mapping: the two concepts are equivalent) OMIM:615418 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1859317 E (Exact mapping: the two concepts are equivalent) CDG Carbohydrate deficient glycoprotein syndrome A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. Orphanet ICD-10:E77.8 MONDO:0015286 MeSH:D018981 MedDRA:10075892 UMLS:C0282577 Autosomal recessive X-linked recessive Infancy Neonatal Europe AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137 Congenital disorder of glycosylation Category ORPHA:137 ICD-10:E77.8 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015286 E (Exact mapping: the two concepts are equivalent) MeSH:D018981 E (Exact mapping: the two concepts are equivalent) MedDRA:10075892 E (Exact mapping: the two concepts are equivalent) UMLS:C0282577 E (Exact mapping: the two concepts are equivalent) Wellesley-Carman-French syndrome Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. Orphanet ICD-10:Q87.8 MONDO:0007277 OMIM:115645 UMLS:C4274900 Childhood Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1373 Cataract-aberrant oral frenula-growth delay syndrome ORPHA:1373 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0007277 E (Exact mapping: the two concepts are equivalent) OMIM:115645 E (Exact mapping: the two concepts are equivalent) UMLS:C4274900 E (Exact mapping: the two concepts are equivalent) CAHMR syndrome Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait. Orphanet ICD-10:Q87.8 ICD-11:LD27.3 MONDO:0008894 MeSH:C537959 OMIM:211770 UMLS:C0796282 Autosomal recessive Neonatal Europe AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1375 Cataract-hypertrichosis-intellectual disability syndrome ORPHA:1375 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0008894 E (Exact mapping: the two concepts are equivalent) MeSH:C537959 E (Exact mapping: the two concepts are equivalent) OMIM:211770 E (Exact mapping: the two concepts are equivalent) UMLS:C0796282 E (Exact mapping: the two concepts are equivalent) HIE Hypoxic and ischemic brain injury in the newborn Hypoxic-ischemic encephalopathy Perinatal hypoxia A rare neonatal encephalopathy characterized by alterations in mental status ranging from irritability and decreased responsiveness to coma, as well as abnormal primitive reflexes, hypotonia, seizures, and abnormalities in feeding and respiration, with an onset within the first hours of life. The condition is associated with high mortality. Long-term sequelae include a spectrum of signs and symptoms including behavioral deficits, developmental delay, learning disabilities, cognitive impairment, seizures, visual and auditory dysfunction, and cerebral palsy. Orphanet ICD-10:P91.6 ICD-11:KB04 UMLS:C5575064 Not applicable Infancy Neonatal Europe AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137577 Neonatal hypoxic and ischemic brain injury ORPHA:137577 ICD-10:P91.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:KB04 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C5575064 E (Exact mapping: the two concepts are equivalent) VIN Vulvar intraepithelial tumor A rare vulvovaginal tumor characterized by intraepithelial neoplastic proliferation of the vulvar epithelium, histologically presenting proliferation of atypical basal cells with basal layer involvement, enlarged nuclei, hyperchromasia, pleomorphic cells and increased numbers of mitotic figures. Patients are frequently asymptomatic, although vulvar pruritus/pain/burning, dysuria and/or dyspareunia may be associated. Concurrent anogenital involvement is frequent. Two subtypes, usual type VIN (uVIN) and differentiated type VIN (dVIN) exist, with uVIN typically being associated with HPV infection and presenting multifocal, elevated lesions around the introitus and/or labia majora, and dVIN being related to chronic inflammation and lesions consisting of poorly demarcated pink or white plaques that are often associated with lichen sclerosus or lichen planus. Diffusely positive p16 immunohistochemistry and high Ki-67 proliferation index in uVIN futher differentiates this subtype from dVIN, this latter being consistently negative for p16 while presenting p53 positivity. Orphanet ICD-10:D07.1 ICD-11:2E67.12 ICD-11:2E67.13 ICD-11:GA13.1 MONDO:0005198 UMLS:C0346210 Not applicable Adult Elderly Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137583 Vulvar intraepithelial neoplasia ORPHA:137583 ICD-10:D07.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:2E67.12 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:2E67.13 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA13.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0005198 E (Exact mapping: the two concepts are equivalent) UMLS:C0346210 E (Exact mapping: the two concepts are equivalent) OBSOLETE: HSV keratitis OBSOLETE: Herpetic keratitis This entity has been obsoleted from the Orphanet nomenclature of rare diseases. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Instead, consider using Infective keratitis OBSOLETE: Herpes simplex virus keratitis ORPHA:137586 Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent. Orphanet ICD-10:H16.8 ICD-11:1F00.10 MONDO:0015289 UMLS:C4749790 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137593 Infectious epithelial keratitis ORPHA:137593 ICD-10:H16.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1F00.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015289 E (Exact mapping: the two concepts are equivalent) UMLS:C4749790 E (Exact mapping: the two concepts are equivalent) Neurotrophic keratitis Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision. Orphanet ICD-10:H16.2 ICD-11:1F00.10 MONDO:0015290 MedDRA:10069732 UMLS:C0339296 Not applicable Adult Childhood Europe AND has_point_prevalence_average_value : 4.2 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137596 Neurotrophic keratopathy ORPHA:137596 ICD-10:H16.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1F00.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015290 E (Exact mapping: the two concepts are equivalent) MedDRA:10069732 E (Exact mapping: the two concepts are equivalent) UMLS:C0339296 E (Exact mapping: the two concepts are equivalent) Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases. Orphanet ICD-10:H16.3 ICD-11:1F00.10 MONDO:0015291 UMLS:C1301533 Not applicable All ages France AND has_annual_incidence_average_value : 5.4 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 4.2091 AND has_point_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137599 Herpes simplex virus stromal keratitis ORPHA:137599 ICD-10:H16.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1F00.10 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015291 E (Exact mapping: the two concepts are equivalent) UMLS:C1301533 E (Exact mapping: the two concepts are equivalent) This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Autosomal ichthyosis syndrome with other associated signs OBSOLETE: Congenital cataract-ichthyosis syndrome ORPHA:1376 A rare corneal disorder characterized by inflammation of the corneal endothelium with corneal edema, keratic precipitates, mild to moderate anterior chamber reaction, and subsequent visual disturbances. It is often associated with increased intraocular pressure. Based on the distribution of the lesions, a linear, sectorial, disciform, and diffuse form can be distinguished. Orphanet ICD-10:H16.8 ICD-11:9A70.0 MedDRA:10062621 UMLS:C0423262 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137602 Corneal endotheliitis ORPHA:137602 ICD-10:H16.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A70.0 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MedDRA:10062621 E (Exact mapping: the two concepts are equivalent) UMLS:C0423262 E (Exact mapping: the two concepts are equivalent) NF1-like syndrome Neurofibromatosis 1-like syndrome Nonmosaic LGSS Nonmosaic Legius syndrome Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling. Orphanet ICD-10:Q85.0 ICD-11:LD27.5 MONDO:0012669 MeSH:C548032 OMIM:611431 UMLS:C1969623 Autosomal dominant Childhood Infancy Neonatal Europe AND has_point_prevalence_range : Unknown Worldwide AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137605 Legius syndrome ORPHA:137605 ICD-10:Q85.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD27.5 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012669 E (Exact mapping: the two concepts are equivalent) MeSH:C548032 E (Exact mapping: the two concepts are equivalent) OMIM:611431 E (Exact mapping: the two concepts are equivalent) UMLS:C1969623 E (Exact mapping: the two concepts are equivalent) SOLAMEN syndrome A rare developmental defect during embryogenesis characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer. Orphanet ICD-10:Q87.3 ICD-11:LD2D.Y MONDO:0015293 UMLS:C4706610 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Clinical subtype ORPHA:137608 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2D.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015293 E (Exact mapping: the two concepts are equivalent) UMLS:C4706610 E (Exact mapping: the two concepts are equivalent) Nephrogenic fibrosing dermopathy Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease. Orphanet ICD-10:L98.8 ICD-11:FB51.Y MONDO:0015294 MedDRA:10067467 UMLS:C3888044 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137617 Nephrogenic systemic fibrosis ORPHA:137617 ICD-10:L98.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:FB51.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015294 E (Exact mapping: the two concepts are equivalent) MedDRA:10067467 E (Exact mapping: the two concepts are equivalent) UMLS:C3888044 E (Exact mapping: the two concepts are equivalent) Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously. Orphanet ICD-10:Q87.8 ICD-11:DA90.Y MONDO:0015295 UMLS:C4304307 Infancy Neonatal Worldwide AND has_cases/families_value : 3.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome ORPHA:137622 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:DA90.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015295 E (Exact mapping: the two concepts are equivalent) UMLS:C4304307 E (Exact mapping: the two concepts are equivalent) GSD due to muscle and heart glycogen synthase deficiency GSD type 0b Glycogen storage disease type 0b Glycogenosis due to muscle and heart glycogen synthase deficiency Glycogenosis type 0b Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. Orphanet ICD-10:E74.0 ICD-11:5C51.3 MONDO:0012693 OMIM:611556 UMLS:C4510752 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 4.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency ORPHA:137625 ICD-10:E74.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C51.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012693 E (Exact mapping: the two concepts are equivalent) OMIM:611556 E (Exact mapping: the two concepts are equivalent) UMLS:C4510752 E (Exact mapping: the two concepts are equivalent) Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported. Orphanet ICD-10:Q28.8 ICD-11:LA8Y MONDO:0015296 UMLS:C4303970 Autosomal dominant Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 9.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137628 Cardiac anomalies-heterotaxy syndrome ORPHA:137628 ICD-10:Q28.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA8Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015296 E (Exact mapping: the two concepts are equivalent) UMLS:C4303970 E (Exact mapping: the two concepts are equivalent) Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. Orphanet ICD-10:D82.8 ICD-11:4A00.2 MONDO:0012757 OMIM:611926 UMLS:C4302919 Infancy Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome ORPHA:137631 ICD-10:D82.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:4A00.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012757 E (Exact mapping: the two concepts are equivalent) OMIM:611926 E (Exact mapping: the two concepts are equivalent) UMLS:C4302919 E (Exact mapping: the two concepts are equivalent) A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism. Orphanet ICD-10:Q87.3 ICD-11:LD2C UMLS:C4302813 Autosomal dominant Antenatal Infancy Neonatal Worldwide AND has_cases/families_value : 6.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137634 Overgrowth-macrocephaly-facial dysmorphism syndrome ORPHA:137634 ICD-10:Q87.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD2C - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). UMLS:C4302813 E (Exact mapping: the two concepts are equivalent) Ataxia-delayed dentition-hypomyelination syndrome ICD-10:E75.2 MONDO:0011897 OMIM:607694 UMLS:C4706676 Autosomal recessive Infancy Neonatal Worldwide AND has_cases/families_value : 8.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Clinical subtype ORPHA:137639 ICD-10:E75.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0011897 E (Exact mapping: the two concepts are equivalent) OMIM:607694 NTBT (ORPHAcode is narrower than the targeted code used to represent it) UMLS:C4706676 E (Exact mapping: the two concepts are equivalent) 4q27 FLJ35630 FLJ41559 ClinVar:BBS12 Ensembl:ENSG00000181004 Genatlas:BBS12 HGNC:26648 OMIM:610683 Reactome:Q6ZW61 SwissProt:Q6ZW61 BBS12 Bardet-Biedl syndrome 12 Kelly-Kirson-Wyatt syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Jawad syndrome Microcephaly-digital anomalies-intellectual disability syndrome ORPHA:137653 Woods-Crouchman-Huson syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Filippi syndrome OMIM:615236 Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome ORPHA:137658 OMIM:615236 E (Exact mapping: the two concepts are equivalent) CM-AVM This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas. Orphanet ICD-10:Q27.3 ICD-11:LA90.3Y MONDO:0012016 MeSH:C564254 OMIM:608354 OMIM:618196 UMLS:C1842180 Autosomal dominant Not applicable Infancy Neonatal Worldwide AND has_cases/families_value : 261.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137667 Capillary malformation-arteriovenous malformation Clinical group ORPHA:137667 ICD-10:Q27.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LA90.3Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012016 E (Exact mapping: the two concepts are equivalent) MeSH:C564254 E (Exact mapping: the two concepts are equivalent) OMIM:608354 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:618196 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1842180 E (Exact mapping: the two concepts are equivalent) A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, non-ulcerative, non-inflammatory, clear thinning of the inferior portion of the peripheral cornea (extending from the 4 o'clock to the 8 o'clock position), with an area of corneal protrusion above the point of maximal thinning, resulting in against-the-rule astigmatism with decreased visual acuity. The central cornea is of normal thickness. Orphanet ICD-10:H18.7 ICD-11:9A78.4 MONDO:0015298 UMLS:C0339288 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137672 Pellucid marginal degeneration ORPHA:137672 ICD-10:H18.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:9A78.4 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015298 E (Exact mapping: the two concepts are equivalent) UMLS:C0339288 E (Exact mapping: the two concepts are equivalent) Foamy myocardial transformation of infancy Infantile cardiomyopathy with histiocytoid change Infantile xanthomatous cardiomyopathy Oncocytic cardiomyopathy A rare arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium. Orphanet ICD-10:I42.0 ICD-11:BC43.00 MONDO:0010771 MeSH:C535584 OMIM:212080 OMIM:500000 UMLS:C1708371 Autosomal recessive Unknown X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 100.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137675 Histiocytoid cardiomyopathy ORPHA:137675 ICD-10:I42.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:BC43.00 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0010771 E (Exact mapping: the two concepts are equivalent) MeSH:C535584 E (Exact mapping: the two concepts are equivalent) OMIM:212080 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:500000 E (Exact mapping: the two concepts are equivalent) UMLS:C1708371 E (Exact mapping: the two concepts are equivalent) Czech dysplasia, metatarsal type SED with metatarsal shortening A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies. Orphanet ICD-10:Q77.7 ICD-11:LD24.3 MONDO:0012206 MeSH:C535766 OMIM:609162 UMLS:C1836683 Autosomal dominant Adolescent Childhood Worldwide AND has_cases/families_value : 13.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137678 Spondyloepiphyseal dysplasia with metatarsal shortening ORPHA:137678 ICD-10:Q77.7 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD24.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012206 E (Exact mapping: the two concepts are equivalent) MeSH:C535766 E (Exact mapping: the two concepts are equivalent) OMIM:609162 E (Exact mapping: the two concepts are equivalent) UMLS:C1836683 E (Exact mapping: the two concepts are equivalent) Hepatoencephalopathy due to COXPD1 A rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement. Orphanet ICD-10:E88.8 ICD-11:5C53.23 MONDO:0012191 OMIM:609060 UMLS:C4707239 Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 2.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ORPHA:137681 ICD-10:E88.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C53.23 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012191 E (Exact mapping: the two concepts are equivalent) OMIM:609060 E (Exact mapping: the two concepts are equivalent) UMLS:C4707239 E (Exact mapping: the two concepts are equivalent) A rare, acquired uterine disease characterized by intrauterine adhesions associated with a history of curettage or intrauterine surgery and gynecological symptoms (secondary amenorrhea, hypomenorrhea, pelvic pain, infertility or pregnancy loss). Orphanet ICD-10:N85.6 ICD-11:GA16.2 MONDO:0015299 MedDRA:10053868 UMLS:C0156372 Not applicable Adult Europe AND has_point_prevalence_average_value : 44.0 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137686 Asherman syndrome ORPHA:137686 ICD-10:N85.6 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA16.2 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015299 E (Exact mapping: the two concepts are equivalent) MedDRA:10053868 E (Exact mapping: the two concepts are equivalent) UMLS:C0156372 E (Exact mapping: the two concepts are equivalent) CMV disease in patients with impaired cell mediated immunity deemed at risk ICD-10:B25.8 ICD-11:1D82.Y Not applicable All ages Europe AND has_point_prevalence_average_value : 25.5 AND has_point_prevalence_range : 1-5 / 10 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137698 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk ORPHA:137698 ICD-10:B25.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1D82.Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed. Orphanet ICD-10:Q13.8 MONDO:0015300 MeSH:C538287 OMIM:115700 OMIM:116200 OMIM:601547 OMIM:604219 UMLS:C1861829 Autosomal dominant Autosomal recessive Neonatal Worldwide AND has_cases/families_value : 8.0 (Family(ies)) Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1377 Cataract-microcornea syndrome ORPHA:1377 ICD-10:Q13.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015300 E (Exact mapping: the two concepts are equivalent) MeSH:C538287 E (Exact mapping: the two concepts are equivalent) OMIM:115700 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:116200 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:601547 BTNT (ORPHAcode is broader than the targeted code used to represent it) OMIM:604219 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1861829 E (Exact mapping: the two concepts are equivalent) ACY1D N-acyl-L-amino acid amidohydrolase deficiency N-acyl-aliphatic-L-amino acid amidohydrolase deficiency A rare inborn error of metabolism (organic aciduria) characterized by elevated urinary levels of numerous N-acetylated amino acids. A causal relationship with a specific clinical phenotype is uncertain. Orphanet ICD-10:E72.8 ICD-11:5C50.E1 MONDO:0012368 MeSH:C538246 OMIM:609924 UMLS:C1835922 Autosomal recessive Childhood Worldwide AND has_cases/families_value : 15.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137754 Aminoacylase 1 deficiency ORPHA:137754 ICD-10:E72.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5C50.E1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012368 E (Exact mapping: the two concepts are equivalent) MeSH:C538246 E (Exact mapping: the two concepts are equivalent) OMIM:609924 E (Exact mapping: the two concepts are equivalent) UMLS:C1835922 E (Exact mapping: the two concepts are equivalent) LCCS2 Multiple contracture syndrome, Israeli-Bedouin type Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. Orphanet ICD-10:Q68.8 ICD-11:LD26.4Y MONDO:0011868 MeSH:C564369 OMIM:607598 UMLS:C1843478 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 1.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137776 Lethal congenital contracture syndrome type 2 ORPHA:137776 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0011868 E (Exact mapping: the two concepts are equivalent) MeSH:C564369 E (Exact mapping: the two concepts are equivalent) OMIM:607598 E (Exact mapping: the two concepts are equivalent) UMLS:C1843478 E (Exact mapping: the two concepts are equivalent) LCCS3 Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement. Orphanet ICD-10:Q68.8 ICD-11:LD26.4Y MONDO:0012656 MeSH:C566961 OMIM:611369 OMIM:614915 UMLS:C1969655 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 14.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137783 Lethal congenital contracture syndrome type 3 ORPHA:137783 ICD-10:Q68.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD26.4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0012656 E (Exact mapping: the two concepts are equivalent) MeSH:C566961 E (Exact mapping: the two concepts are equivalent) OMIM:611369 E (Exact mapping: the two concepts are equivalent) OMIM:614915 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C1969655 E (Exact mapping: the two concepts are equivalent) PLCA Primary localized cutaneous amyloidosis A rare group of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis. Orphanet ICD-11:5D00.0 MONDO:0015301 MeSH:C562642 MedDRA:10011659 UMLS:C0268397 Autosomal dominant Not applicable All ages Taiwan, Province of China AND has_point_prevalence_average_value : 9.8 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137807 Primary cutaneous amyloidosis Clinical group ORPHA:137807 ICD-11:5D00.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015301 E (Exact mapping: the two concepts are equivalent) MeSH:C562642 E (Exact mapping: the two concepts are equivalent) MedDRA:10011659 E (Exact mapping: the two concepts are equivalent) UMLS:C0268397 E (Exact mapping: the two concepts are equivalent) PLCNA Primary localized cutaneous nodular amyloidosis Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögren’s syndrome and CREST syndrome. Orphanet ICD-10:E85.4+ ICD-10:L99.0* ICD-11:5D00.0 MONDO:0015302 MedDRA:10056953 UMLS:C4274331 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137810 Nodular cutaneous amyloidosis ORPHA:137810 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-10:L99.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:5D00.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015302 E (Exact mapping: the two concepts are equivalent) MedDRA:10056953 E (Exact mapping: the two concepts are equivalent) UMLS:C4274331 E (Exact mapping: the two concepts are equivalent) Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis. Orphanet ICD-10:E85.4+ ICD-10:L99.0* ICD-11:5D00.0 MONDO:0015303 UMLS:C0544839 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137814 Macular amyloidosis ORPHA:137814 ICD-10:E85.4+ - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-10:L99.0* - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code). ICD-11:5D00.0 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0015303 E (Exact mapping: the two concepts are equivalent) UMLS:C0544839 E (Exact mapping: the two concepts are equivalent) Adhesive arachnoiditis Chronic arachnoiditis A chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems. Orphanet ICD-10:G03.9 ICD-11:8E40.3 MONDO:0015304 MeSH:D001100 MedDRA:10003074 OMIM:182950 UMLS:C0003708 Not applicable All ages Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137817 Arachnoiditis ORPHA:137817 ICD-10:G03.9 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8E40.3 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015304 E (Exact mapping: the two concepts are equivalent) MeSH:D001100 E (Exact mapping: the two concepts are equivalent) MedDRA:10003074 E (Exact mapping: the two concepts are equivalent) OMIM:182950 BTNT (ORPHAcode is broader than the targeted code used to represent it) UMLS:C0003708 E (Exact mapping: the two concepts are equivalent) Endometriosis outside pelvis A rare, non-malformative gynecologic disease characterized by the presence of functional endometrial glands and stroma in extrapelvic locations, such as lungs, pleura, kidneys, bladder, abdominal wall, umbilicus, and cesarean section scar among others. Clinical manifestations are menstrually-related and depend on the location of the ectopic tissue, but in general include pain, mass/nodule, swelling and/or bleeding in the involved area. Orphanet ICD-10:N80.0 ICD-10:N80.1 ICD-10:N80.2 ICD-10:N80.3 ICD-10:N80.4 ICD-10:N80.5 ICD-10:N80.6 ICD-10:N80.8 ICD-10:N80.9 ICD-11:GA10.C ICD-11:GA10.C0 ICD-11:GA10.C1 ICD-11:GA10.C2 ICD-11:GA10.C3 ICD-11:GA10.CY ICD-11:GA10.D ICD-11:GA10.D0 ICD-11:GA10.DY ICD-11:GA10.E ICD-11:GA10.F ICD-11:GA10.G ICD-11:GA10.H ICD-11:GA10.Y UMLS:C0404545 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137820 Extrapelvic endometriosis ORPHA:137820 ICD-10:N80.0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N80.1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N80.2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N80.3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N80.4 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N80.5 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N80.6 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N80.8 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-10:N80.9 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.C - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.C0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.C1 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.C2 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.C3 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.CY - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.D - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.D0 - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.DY - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.E - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.F - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.G - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.H - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). ICD-11:GA10.Y - BTNT (ORPHAcode is broader than the targeted code used to represent it). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). UMLS:C0404545 E (Exact mapping: the two concepts are equivalent) OPHN1 syndrome Oligophrenin-1 syndrome X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. Orphanet ICD-10:Q04.3 ICD-11:LD90 MONDO:0010337 OMIM:300486 UMLS:C4304937 X-linked dominant Infancy Neonatal Worldwide AND has_cases/families_value : 14.0 (Family(ies)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137831 X-linked intellectual disability-cerebellar hypoplasia syndrome ORPHA:137831 ICD-10:Q04.3 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD90 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0010337 E (Exact mapping: the two concepts are equivalent) OMIM:300486 E (Exact mapping: the two concepts are equivalent) UMLS:C4304937 E (Exact mapping: the two concepts are equivalent) Ter Haar syndrome A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. Orphanet ICD-10:Q87.8 ICD-11:LD25.1 MONDO:0009579 MeSH:C537274 OMIM:249420 UMLS:C1855305 Autosomal recessive Antenatal Neonatal Worldwide AND has_cases/families_value : 30.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137834 Frank-Ter Haar syndrome ORPHA:137834 ICD-10:Q87.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:LD25.1 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation). MONDO:0009579 E (Exact mapping: the two concepts are equivalent) MeSH:C537274 E (Exact mapping: the two concepts are equivalent) OMIM:249420 E (Exact mapping: the two concepts are equivalent) UMLS:C1855305 E (Exact mapping: the two concepts are equivalent) Lemierre postanginal sepsis Postanginal sepsis secondary to orophyngeal infection Septic phlebitis of the internal jugular vein Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to <i>Fusobacterium necrophorum</i> and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis. Orphanet ICD-10:I80.8 ICD-11:1C4Y MONDO:0015306 MeSH:D057831 MedDRA:10065552 UMLS:C0343525 Adolescent Denmark AND has_annual_incidence_average_value : 36.0 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_annual_incidence_average_value : 10.0 AND has_annual_incidence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137839 Lemierre syndrome ORPHA:137839 ICD-10:I80.8 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:1C4Y - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). MONDO:0015306 E (Exact mapping: the two concepts are equivalent) MeSH:D057831 E (Exact mapping: the two concepts are equivalent) MedDRA:10065552 E (Exact mapping: the two concepts are equivalent) UMLS:C0343525 E (Exact mapping: the two concepts are equivalent) Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome OMIM:601346 UMLS:C1832443 Martínez-Frías syndrome ORPHA:137862 OMIM:601346 E (Exact mapping: the two concepts are equivalent) UMLS:C1832443 E (Exact mapping: the two concepts are equivalent) MMND Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. Orphanet ICD-10:G12.2 ICD-11:8B60.7 MONDO:0015307 UMLS:C0393551 Not applicable X-linked recessive Adolescent Adult Childhood Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=137867 Madras motor neuron disease ORPHA:137867 ICD-10:G12.2 - NTBT (ORPHAcode is narrower than the targeted code used to represent it). - Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet). ICD-11:8B60.7 - E (Exact mapping: the two concepts are equivalent). - Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology). MONDO:0015307 E (Exact mapping: the two concepts are equivalent) UMLS:C0393551 E (Exact mapping: the two concepts are equivalent) OBSOLETE: Laminopathy with severe metabolic syndrome and myopathy This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Familial partial lipodystrophy, Dunnigan type OBSOLETE: Laminopathy type Decaudain-Vigouroux ORPHA:137871 Question mark ear syndrome