commit b116a922e5dbc6d1e710e6df2ff6dd8b181e3236 Author: davidlagorce Date: Mon Feb 1 13:09:28 2021 +0100 FEB 2021 diff --git a/Rare diseases with associated phenotypes/en_product4.xml b/Rare diseases with associated phenotypes/en_product4.xml old mode 100644 new mode 100755 index 6b01fb9..779df45 --- a/Rare diseases with associated phenotypes/en_product4.xml +++ b/Rare diseases with associated phenotypes/en_product4.xml @@ -1,5 +1,5 @@ - + Creative Commons Attribution 4.0 International @@ -7,7 +7,7 @@ https://creativecommons.org/licenses/by/4.0/legalcode - + 58 @@ -39082,205 +39082,6 @@ y 2016-06-01 00:00:00.0 - - - 99 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99 - Autosomal dominant cerebellar ataxia - - Category - - - Group of disorders - - - - - HP:0000544 - External ophthalmoplegia - - - Occasional (29-5%) - - - - - - HP:0000639 - Nystagmus - - - Very frequent (99-80%) - - - - - - HP:0000648 - Optic atrophy - - - Very frequent (99-80%) - - - - - - HP:0000708 - Behavioral abnormality - - - Frequent (79-30%) - - - - - - HP:0001251 - Ataxia - - - Very frequent (99-80%) - - - - - - HP:0001257 - Spasticity - - - Frequent (79-30%) - - - - - - HP:0001260 - Dysarthria - - - Frequent (79-30%) - - - - - - HP:0001272 - Cerebellar atrophy - - - Very frequent (99-80%) - - - - - - HP:0001288 - Gait disturbance - - - Very frequent (99-80%) - - - - - - HP:0001315 - Reduced tendon reflexes - - - Frequent (79-30%) - - - - - - HP:0001605 - Vocal cord paralysis - - - Frequent (79-30%) - - - - - - HP:0002097 - Emphysema - - - Frequent (79-30%) - - - - - - HP:0003693 - Distal amyotrophy - - - Occasional (29-5%) - - - - - - HP:0005978 - Type II diabetes mellitus - - - Occasional (29-5%) - - - - - - HP:0007328 - Impaired pain sensation - - - Frequent (79-30%) - - - - - - HP:0007703 - Abnormality of retinal pigmentation - - - Very frequent (99-80%) - - - - - - HP:0012074 - Tonic pupil - - - Very frequent (99-80%) - - - - - - HP:0100022 - Abnormality of movement - - - Frequent (79-30%) - - - - - - - y - y - 2016-06-01 00:00:00.0 - 87 @@ -39780,95 +39581,6 @@ y 2016-06-01 00:00:00.0 - - - 2442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2442 - X-linked lymphoproliferative disease - - Clinical group - - - Group of disorders - - - - - HP:0001744 - Splenomegaly - - - Frequent (79-30%) - - - - - - HP:0001903 - Anemia - - - Occasional (29-5%) - - - - - - HP:0002240 - Hepatomegaly - - - Frequent (79-30%) - - - - - - HP:0002665 - Lymphoma - - - Frequent (79-30%) - - - - - - HP:0002716 - Lymphadenopathy - - - Frequent (79-30%) - - - - - - HP:0004313 - Decreased antibody level in blood - - - Frequent (79-30%) - - - - - - HP:0005374 - Cellular immunodeficiency - - - Very frequent (99-80%) - - - - - - - y - y - 2016-06-01 00:00:00.0 - 313 @@ -44975,183 +44687,243 @@ Group of disorders - - - - HP:0000483 - Astigmatism + + + + HP:0000539 + Abnormality of refraction - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0000486 - Strabismus + + + HP:0000613 + Photophobia - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0000505 - Visual impairment + + + HP:0000639 + Nystagmus - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0000545 - Myopia + + + HP:0000992 + Cutaneous photosensitivity - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0000613 - Photophobia + + + HP:0007513 + Generalized hypopigmentation - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0000639 - Nystagmus + + + HP:0007663 + Reduced visual acuity Very frequent (99-80%) - - - HP:0000992 - Cutaneous photosensitivity + + + HP:0007730 + Iris hypopigmentation Very frequent (99-80%) - - - HP:0002227 - White eyelashes + + + HP:0007750 + Hypoplasia of the fovea + + + Very frequent (99-80%) + + + + + + HP:0007894 + Hypopigmentation of the fundus + + + Very frequent (99-80%) + + + + + + HP:0000486 + Strabismus Frequent (79-30%) - - - HP:0002671 - Basal cell carcinoma + + + HP:0001010 + Hypopigmentation of the skin - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0002861 - Melanoma + + + HP:0001107 + Ocular albinism - - Occasional (29-5%) + + Frequent (79-30%) + + + + + + HP:0002226 + White eyebrow + + + Frequent (79-30%) + + + + + + HP:0002227 + White eyelashes + + + Frequent (79-30%) - + HP:0005599 Hypopigmentation of hair - - Very frequent (99-80%) + + Frequent (79-30%) - + HP:0006739 Squamous cell carcinoma of the skin - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0007513 - Generalized hypopigmentation + + + HP:0011358 + Generalized hypopigmentation of hair - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0007730 - Iris hypopigmentation + + + HP:0011364 + White hair - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0007750 - Hypoplasia of the fovea + + + HP:0200098 + Absent skin pigmentation Frequent (79-30%) - - - HP:0008499 - High hypermetropia + + + HP:0002297 + Red hair - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0011364 - White hair + + + HP:0002671 + Basal cell carcinoma - - Very frequent (99-80%) + + Occasional (29-5%) + + + + + + HP:0000612 + Iris coloboma + + + Very rare (<4-1%) + + + + + + HP:0012056 + Cutaneous melanoma + + + Very rare (<4-1%) - + 27350326[PMID]_31196117[PLMID]_25093188[PMID]_29374654[PMID]_30996339[PLMID] y y - 2016-06-01 00:00:00.0 + 2021-01-11 00:00:00.0 @@ -47610,345 +47382,6 @@ y 2016-06-01 00:00:00.0 - - - 352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352 - Galactosemia - - Category - - - Group of disorders - - - - - HP:0000044 - Hypogonadotrophic hypogonadism - - - Occasional (29-5%) - - - - - - HP:0000083 - Renal insufficiency - - - Occasional (29-5%) - - - - - - HP:0000252 - Microcephaly - - - Occasional (29-5%) - - - - - - HP:0000505 - Visual impairment - - - Occasional (29-5%) - - - - - - HP:0000518 - Cataract - - - Frequent (79-30%) - - - - - - HP:0000939 - Osteoporosis - - - Very frequent (99-80%) - - - - - - HP:0000952 - Jaundice - - - Very frequent (99-80%) - - - - - - HP:0001249 - Intellectual disability - - - Very frequent (99-80%) - - - - - - HP:0001250 - Seizures - - - Occasional (29-5%) - - - - - - HP:0001251 - Ataxia - - - Occasional (29-5%) - - - - - - HP:0001252 - Muscular hypotonia - - - Frequent (79-30%) - - - - - - HP:0001254 - Lethargy - - - Very frequent (99-80%) - - - - - - HP:0001260 - Dysarthria - - - Occasional (29-5%) - - - - - - HP:0001263 - Global developmental delay - - - Very frequent (99-80%) - - - - - - HP:0001337 - Tremor - - - Frequent (79-30%) - - - - - - HP:0001399 - Hepatic failure - - - Very frequent (99-80%) - - - - - - HP:0001510 - Growth delay - - - Frequent (79-30%) - - - - - - HP:0001531 - Failure to thrive in infancy - - - Very frequent (99-80%) - - - - - - HP:0001541 - Ascites - - - Frequent (79-30%) - - - - - - HP:0001608 - Abnormality of the voice - - - Frequent (79-30%) - - - - - - HP:0001878 - Hemolytic anemia - - - Occasional (29-5%) - - - - - - HP:0001928 - Abnormality of coagulation - - - Frequent (79-30%) - - - - - - HP:0001939 - Abnormality of metabolism/homeostasis - - - Very frequent (99-80%) - - - - - - HP:0001943 - Hypoglycemia - - - Occasional (29-5%) - - - - - - HP:0002017 - Nausea and vomiting - - - Very frequent (99-80%) - - - - - - HP:0002167 - Neurological speech impairment - - - Frequent (79-30%) - - - - - - HP:0002240 - Hepatomegaly - - - Frequent (79-30%) - - - - - - HP:0008872 - Feeding difficulties in infancy - - - Very frequent (99-80%) - - - - - - HP:0010741 - Pedal edema - - - Frequent (79-30%) - - - - - - HP:0011098 - Speech apraxia - - - Occasional (29-5%) - - - - - - HP:0100543 - Cognitive impairment - - - Very frequent (99-80%) - - - - - - HP:0100806 - Sepsis - - - Frequent (79-30%) - - - - - - - y - y - 2016-06-01 00:00:00.0 - 1947 @@ -49793,75 +49226,6 @@ y 2016-06-01 00:00:00.0 - - - 370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370 - Glycogen storage disease due to phosphorylase kinase deficiency - - Clinical group - - - Group of disorders - - - - - HP:0001510 - Growth delay - - - Frequent (79-30%) - - - - - - HP:0001943 - Hypoglycemia - - - Very frequent (99-80%) - - - - - - HP:0003119 - Abnormality of lipid metabolism - - - Frequent (79-30%) - - - - - - HP:0004322 - Short stature - - - Very frequent (99-80%) - - - - - - HP:0100543 - Cognitive impairment - - - Frequent (79-30%) - - - - - - - y - y - 2016-06-01 00:00:00.0 - 30 @@ -60367,7 +59731,7 @@ 1880 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1880 - Ebstein malformation + Ebstein malformation of the tricuspid valve Morphological anomaly @@ -64252,193 +63616,273 @@ Group of disorders - - - - HP:0000364 - Hearing abnormality + + + + HP:0000707 + Abnormality of the nervous system Very frequent (99-80%) - - - HP:0000365 - Hearing impairment + + + HP:0001987 + Hyperammonemia Very frequent (99-80%) - - - HP:0000478 - Abnormality of the eye + + + HP:0001992 + Organic aciduria - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0000504 - Abnormality of vision + + + HP:0005979 + Metabolic ketoacidosis - - Frequent (79-30%) + + Very frequent (99-80%) + + + + + + HP:0012379 + Abnormal enzyme/coenzyme activity + + + Very frequent (99-80%) - + HP:0000988 Skin rash - - Very frequent (99-80%) + + Frequent (79-30%) - + HP:0001250 Seizures - - Very frequent (99-80%) + + Frequent (79-30%) - + HP:0001252 Muscular hypotonia - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0001254 - Lethargy + + + HP:0011968 + Feeding difficulties - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0001263 - Global developmental delay + + + HP:0025356 + Psychomotor retardation - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0001595 - Abnormality of the hair + + + HP:0410145 + Decreased biotinidase activity - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0001596 - Alopecia + + + HP:0000365 + Hearing impairment - - Very frequent (99-80%) + + Occasional (29-5%) - - - HP:0001824 - Weight loss + + + HP:0000478 + Abnormality of the eye - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0002017 - Nausea and vomiting + + + HP:0000505 + Visual impairment - - Very frequent (99-80%) + + Occasional (29-5%) + + + + + + HP:0001251 + Ataxia + + + Occasional (29-5%) + + + + + + HP:0001254 + Lethargy + + + Occasional (29-5%) + + + + + + HP:0001259 + Coma + + + Occasional (29-5%) + + + + + + HP:0001596 + Alopecia + + + Occasional (29-5%) + + + + + + HP:0002098 + Respiratory distress + + + Occasional (29-5%) - + HP:0002715 Abnormality of the immune system - - Very frequent (99-80%) + + Occasional (29-5%) - - - HP:0008066 - Abnormal blistering of the skin + + + HP:0002789 + Tachypnea - - Very frequent (99-80%) + + Occasional (29-5%) - - - HP:0100533 - Inflammatory abnormality of the eye + + + HP:0003690 + Limb muscle weakness - - Very frequent (99-80%) + + Occasional (29-5%) - - - HP:0100543 - Cognitive impairment + + + HP:0000575 + Scotoma - - Very frequent (99-80%) + + Very rare (<4-1%) - - - HP:0200037 - Skin vesicle + + + HP:0000648 + Optic atrophy - - Very frequent (99-80%) + + Very rare (<4-1%) + + + + + + HP:0002313 + Spastic paraparesis + + + Very rare (<4-1%) + + + + + + HP:0008311 + Spinal cord posterior columns myelin loss + + + Very rare (<4-1%) - + 23622402[PMID]_30746739[PMID]_22116691[PMID] y y - 2016-06-01 00:00:00.0 + 2021-01-29 00:00:00.0 @@ -66456,7 +65900,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Frequent (79-30%) @@ -136192,7 +135636,7 @@ HP:0001682 - Subaortic stenosis + Subvalvular aortic stenosis Occasional (29-5%) @@ -146809,7 +146253,7 @@ 1200 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200 - Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome + Burn-McKeown syndrome Malformation syndrome @@ -156223,7 +155667,7 @@ HP:0001682 - Subaortic stenosis + Subvalvular aortic stenosis Very frequent (99-80%) @@ -180011,125 +179455,6 @@ y 2016-06-01 00:00:00.0 - - - 1867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1867 - Hereditary bullous dystrophy, macular type - - Disease - - - Disorder - - - - - HP:0000078 - Abnormality of the genital system - - - Frequent (79-30%) - - - - - - HP:0000252 - Microcephaly - - - Very frequent (99-80%) - - - - - - HP:0001063 - Acrocyanosis - - - Very frequent (99-80%) - - - - - - HP:0001182 - Tapered finger - - - Very frequent (99-80%) - - - - - - HP:0001249 - Intellectual disability - - - Very frequent (99-80%) - - - - - - HP:0001597 - Abnormality of the nail - - - Very frequent (99-80%) - - - - - - HP:0007418 - Alopecia totalis - - - Very frequent (99-80%) - - - - - - HP:0007440 - Generalized hyperpigmentation - - - Very frequent (99-80%) - - - - - - HP:0008066 - Abnormal blistering of the skin - - - Very frequent (99-80%) - - - - - - HP:0011362 - Abnormal hair quantity - - - Very frequent (99-80%) - - - - - - - y - y - 2016-06-01 00:00:00.0 - 1873 @@ -218422,7 +217747,7 @@ 2325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325 - Epidermolysis bullosa simplex with deafness, alopecia, anodontia/hypodontia and nail dystrophy + Epidermolysis bullosa simplex with anodontia/hypodontia Malformation syndrome @@ -265182,7 +264507,7 @@ HP:0001682 - Subaortic stenosis + Subvalvular aortic stenosis Very frequent (99-80%) @@ -275380,7 +274705,7 @@ HP:0001102 - Angioid streaks of the retina + Angioid streaks of the fundus Very frequent (99-80%) @@ -276504,7 +275829,7 @@ 2908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908 - Kindler syndrome + Kindler epidermolysis bullosa Disease @@ -309105,7 +308430,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Frequent (79-30%) @@ -312236,105 +311561,6 @@ y 2016-06-01 00:00:00.0 - - - 35069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 - Infantile neuroaxonal dystrophy - - Disease - - - Disorder - - - - - HP:0000496 - Abnormality of eye movement - - - Very frequent (99-80%) - - - - - - HP:0000505 - Visual impairment - - - Frequent (79-30%) - - - - - - HP:0000639 - Nystagmus - - - Very frequent (99-80%) - - - - - - HP:0000648 - Optic atrophy - - - Very frequent (99-80%) - - - - - - HP:0001250 - Seizures - - - Occasional (29-5%) - - - - - - HP:0001252 - Muscular hypotonia - - - Very frequent (99-80%) - - - - - - HP:0002376 - Developmental regression - - - Very frequent (99-80%) - - - - - - HP:0004326 - Cachexia - - - Frequent (79-30%) - - - - - - - y - y - 2016-06-01 00:00:00.0 - 35093 @@ -318336,45 +317562,6 @@ y 2016-06-01 00:00:00.0 - - - 79237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237 - Galactokinase deficiency - - Disease - - - Disorder - - - - - HP:0000518 - Cataract - - - Very frequent (99-80%) - - - - - - HP:0004915 - Impairment of galactose metabolism - - - Very frequent (99-80%) - - - - - - - y - y - 2016-06-01 00:00:00.0 - 79238 @@ -319230,79 +318417,209 @@ y 2016-06-01 00:00:00.0 - - - 79239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 - Classic galactosemia + + + 79241 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241 + Biotinidase deficiency Disease Disorder - - - - HP:0000137 - Abnormality of the ovary + + + + HP:0001992 + Organic aciduria Very frequent (99-80%) - - - HP:0000518 - Cataract + + + HP:0005979 + Metabolic ketoacidosis + + + Very frequent (99-80%) + + + + + + HP:0410145 + Decreased biotinidase activity + + + Very frequent (99-80%) + + + + + + HP:0000407 + Sensorineural hearing impairment Frequent (79-30%) - - - HP:0000868 - Decreased fertility in females + + + HP:0000707 + Abnormality of the nervous system Frequent (79-30%) - - - HP:0000939 - Osteoporosis + + + HP:0000988 + Skin rash - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0000952 - Jaundice + + + HP:0001250 + Seizures - - Very frequent (99-80%) + + Frequent (79-30%) + + + + + + HP:0001252 + Muscular hypotonia + + + Frequent (79-30%) + + + + + + HP:0001987 + Hyperammonemia + + + Frequent (79-30%) + + + + + + HP:0002715 + Abnormality of the immune system + + + Frequent (79-30%) + + + + + + HP:0410263 + Brain imaging abnormality + + + Frequent (79-30%) + + + + + + HP:0000365 + Hearing impairment + + + Occasional (29-5%) + + + + + + HP:0000478 + Abnormality of the eye + + + Occasional (29-5%) + + + + + + HP:0000509 + Conjunctivitis + + + Occasional (29-5%) + + + + + + HP:0000575 + Scotoma + + + Occasional (29-5%) + + + + + + HP:0000648 + Optic atrophy + + + Occasional (29-5%) - + + + HP:0000976 + Eczematoid dermatitis + + + Occasional (29-5%) + + + + + + HP:0001138 + Optic neuropathy + + + Occasional (29-5%) + + + + HP:0001249 Intellectual disability - - Frequent (79-30%) + + Occasional (29-5%) - + HP:0001251 Ataxia @@ -319312,7 +318629,7 @@ - + HP:0001254 Lethargy @@ -319322,419 +318639,170 @@ - - - HP:0001260 - Dysarthria - - - Occasional (29-5%) - - - - - - HP:0001288 - Gait disturbance - - - Occasional (29-5%) - - - - - - HP:0001337 - Tremor + + + HP:0001596 + Alopecia Occasional (29-5%) - - - HP:0001399 - Hepatic failure - - - Very frequent (99-80%) - - - - - - HP:0001508 - Failure to thrive - - - Frequent (79-30%) - - - - - - HP:0001824 - Weight loss - - - Very frequent (99-80%) - - - - - - HP:0001892 - Abnormal bleeding - - - Very frequent (99-80%) - - - - - - HP:0001943 - Hypoglycemia - - - Very frequent (99-80%) - - - - - - HP:0002017 - Nausea and vomiting - - - Frequent (79-30%) - - - - - - HP:0003811 - Neonatal death + + + HP:0002069 + Generalized tonic-clonic seizures Occasional (29-5%) - - - HP:0004915 - Impairment of galactose metabolism - - - Frequent (79-30%) - - - - - - HP:0009088 - Speech articulation difficulties - - - Frequent (79-30%) - - - - - - HP:0011098 - Speech apraxia - - - Frequent (79-30%) - - - - - - HP:0011968 - Feeding difficulties - - - Frequent (79-30%) - - - - - - HP:0100022 - Abnormality of movement + + + HP:0002098 + Respiratory distress Occasional (29-5%) - - - HP:0100806 - Sepsis + + + HP:0002104 + Apnea Occasional (29-5%) - - - 20301691[PMID] - y - y - 2016-06-01 00:00:00.0 - - - - 79241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241 - Biotinidase deficiency - - Disease - - - Disorder - - - - - HP:0001252 - Muscular hypotonia - - - Very frequent (99-80%) - - - - + HP:0002123 Generalized myoclonic seizures - - Very frequent (99-80%) - - - - - - HP:0005979 - Metabolic ketoacidosis - - - Very frequent (99-80%) - - - - - - HP:0000365 - Hearing impairment - - - Frequent (79-30%) - - - - - - HP:0000648 - Optic atrophy - - - Frequent (79-30%) - - - - - - HP:0001096 - Keratoconjunctivitis - - - Frequent (79-30%) - - - - - - HP:0001251 - Ataxia - - - Frequent (79-30%) - - - - - - HP:0001263 - Global developmental delay - - - Frequent (79-30%) - - - - - - HP:0001596 - Alopecia - - - Frequent (79-30%) - - - - - - HP:0007549 - Desquamation of skin soon after birth - - - Frequent (79-30%) - - - - - - HP:0011127 - Perioral eczema - - - Frequent (79-30%) - - - - - - HP:0000545 - Myopia - Occasional (29-5%) - - - HP:0001123 - Visual field defect + + + HP:0002196 + Myelopathy Occasional (29-5%) - - - HP:0001254 - Lethargy + + + HP:0002313 + Spastic paraparesis Occasional (29-5%) - - - HP:0001259 - Coma + + + HP:0002841 + Recurrent fungal infections Occasional (29-5%) - - - HP:0001276 - Hypertonia + + + HP:0002883 + Hyperventilation Occasional (29-5%) - - - HP:0001317 - Abnormal cerebellum morphology + + + HP:0003690 + Limb muscle weakness Occasional (29-5%) - - - HP:0001324 - Muscle weakness + + + HP:0004429 + Recurrent viral infections Occasional (29-5%) - - - HP:0001510 - Growth delay + + + HP:0005401 + Recurrent candida infections Occasional (29-5%) - - - HP:0002104 - Apnea + + + HP:0006511 + Laryngeal stridor Occasional (29-5%) - - - HP:0002841 - Recurrent fungal infections + + + HP:0011153 + Focal motor seizure Occasional (29-5%) - - - HP:0002883 - Hyperventilation + + + HP:0012469 + Infantile spasms Occasional (29-5%) - - - HP:0006511 - Laryngeal stridor + + + HP:0025356 + Psychomotor retardation Occasional (29-5%) - - - HP:0007730 - Iris hypopigmentation + + + HP:0200068 + Nonprogressive visual loss Occasional (29-5%) @@ -319743,10 +318811,10 @@ - 20301497[PMID]_23248366[PMID] + 30746739[PMID]_20301497[PMID] y y - 2016-06-01 00:00:00.0 + 2021-01-29 00:00:00.0 @@ -334773,175 +333841,6 @@ y 2016-06-01 00:00:00.0 - - - 65250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65250 - Perineural cyst - - Disease - - - Disorder - - - - - HP:0000763 - Sensory neuropathy - - - Frequent (79-30%) - - - - - - HP:0000802 - Impotence - - - Occasional (29-5%) - - - - - - HP:0000925 - Abnormality of the vertebral column - - - Very frequent (99-80%) - - - - - - HP:0001284 - Areflexia - - - Occasional (29-5%) - - - - - - HP:0001324 - Muscle weakness - - - Occasional (29-5%) - - - - - - HP:0001482 - Subcutaneous nodule - - - Occasional (29-5%) - - - - - - HP:0002027 - Abdominal pain - - - Frequent (79-30%) - - - - - - HP:0002315 - Headache - - - Frequent (79-30%) - - - - - - HP:0002607 - Bowel incontinence - - - Occasional (29-5%) - - - - - - HP:0002797 - Osteolysis - - - Frequent (79-30%) - - - - - - HP:0002839 - Urinary bladder sphincter dysfunction - - - Occasional (29-5%) - - - - - - HP:0003401 - Paresthesia - - - Frequent (79-30%) - - - - - - HP:0004375 - Neoplasm of the nervous system - - - Very frequent (99-80%) - - - - - - HP:0005107 - Abnormal sacrum morphology - - - Very frequent (99-80%) - - - - - - HP:0010830 - Impaired tactile sensation - - - Occasional (29-5%) - - - - - - - y - y - 2016-06-01 00:00:00.0 - 65286 @@ -335307,7 +334206,7 @@ HP:0001682 - Subaortic stenosis + Subvalvular aortic stenosis Occasional (29-5%) @@ -346576,78 +345475,78 @@ Disorder - - - - HP:0000486 - Strabismus + + + + HP:0000639 + Nystagmus Very frequent (99-80%) - - - HP:0000505 - Visual impairment + + + HP:0007663 + Reduced visual acuity - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0000587 - Abnormality of the optic nerve + + + HP:0007703 + Abnormality of retinal pigmentation - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0000613 - Photophobia + + + HP:0007750 + Hypoplasia of the fovea - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0000639 - Nystagmus + + + HP:0000613 + Photophobia Frequent (79-30%) - + HP:0001010 Hypopigmentation of the skin - - Very frequent (99-80%) + + Frequent (79-30%) - + HP:0001022 Albinism - - Very frequent (99-80%) + + Frequent (79-30%) - + HP:0001072 Thickened skin @@ -346657,72 +345556,82 @@ - - - HP:0002671 - Basal cell carcinoma + + + HP:0001107 + Ocular albinism - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0002861 - Melanoma + + + HP:0005599 + Hypopigmentation of hair - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0005599 - Hypopigmentation of hair + + + HP:0007730 + Iris hypopigmentation - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0006739 - Squamous cell carcinoma of the skin + + + HP:0011364 + White hair - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0007730 - Iris hypopigmentation + + + HP:0025551 + Optic nerve misrouting Frequent (79-30%) - - - HP:0007750 - Hypoplasia of the fovea + + + HP:0003764 + Nevus - - Occasional (29-5%) + + Very rare (<4-1%) + + + + + + HP:0008069 + Neoplasm of the skin + + + Very rare (<4-1%) - + 16965274[PMID]_20301683[PMID]_27734839[PMID]_14961451[PMID] y y - 2016-06-01 00:00:00.0 + 2021-01-15 00:00:00.0 @@ -346913,115 +345822,6 @@ y 2016-06-01 00:00:00.0 - - - 79433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433 - Oculocutaneous albinism type 3 - - Disease - - - Disorder - - - - - HP:0000486 - Strabismus - - - Frequent (79-30%) - - - - - - HP:0000639 - Nystagmus - - - Very frequent (99-80%) - - - - - - HP:0000992 - Cutaneous photosensitivity - - - Occasional (29-5%) - - - - - - HP:0001010 - Hypopigmentation of the skin - - - Very frequent (99-80%) - - - - - - HP:0001022 - Albinism - - - Very frequent (99-80%) - - - - - - HP:0001480 - Freckling - - - Frequent (79-30%) - - - - - - HP:0002297 - Red hair - - - Frequent (79-30%) - - - - - - HP:0005599 - Hypopigmentation of hair - - - Frequent (79-30%) - - - - - - HP:0007730 - Iris hypopigmentation - - - Very frequent (99-80%) - - - - - - - y - y - 2016-06-01 00:00:00.0 - 79503 @@ -351579,11 +350379,11 @@ 79402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79402 Junctional epidermolysis bullosa, generalized intermediate - - Clinical subtype + + Disease - - Subtype of disorder + + Disorder @@ -352622,7 +351422,7 @@ 79401 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79401 - Epidermolysis bullosa simplex, Ogna type + PLEC-related epidermolysis bullosa simplex without extracutaneous involvement Disease @@ -353276,48 +352076,38 @@ Disorder - - - - HP:0000486 - Strabismus - - - Frequent (79-30%) - - - - - - HP:0000505 - Visual impairment + + + + HP:0000539 + Abnormality of refraction Frequent (79-30%) - - - HP:0000587 - Abnormality of the optic nerve + + + HP:0000613 + Photophobia Frequent (79-30%) - - - HP:0000613 - Photophobia + + + HP:0000635 + Blue irides Frequent (79-30%) - + HP:0000639 Nystagmus @@ -353327,7 +352117,7 @@ - + HP:0001010 Hypopigmentation of the skin @@ -353337,17 +352127,17 @@ - - - HP:0001022 - Albinism + + + HP:0001100 + Heterochromia iridis Frequent (79-30%) - + HP:0001480 Freckling @@ -353357,7 +352147,117 @@ - + + + HP:0002226 + White eyebrow + + + Frequent (79-30%) + + + + + + HP:0005599 + Hypopigmentation of hair + + + Frequent (79-30%) + + + + + + HP:0007663 + Reduced visual acuity + + + Frequent (79-30%) + + + + + + HP:0007703 + Abnormality of retinal pigmentation + + + Frequent (79-30%) + + + + + + HP:0007730 + Iris hypopigmentation + + + Frequent (79-30%) + + + + + + HP:0007750 + Hypoplasia of the fovea + + + Frequent (79-30%) + + + + + + HP:0007988 + Macular hypopigmentation + + + Frequent (79-30%) + + + + + + HP:0011364 + White hair + + + Frequent (79-30%) + + + + + + HP:0012805 + Iris transillumination defect + + + Frequent (79-30%) + + + + + + HP:0025551 + Optic nerve misrouting + + + Frequent (79-30%) + + + + + + HP:0002227 + White eyelashes + + + Occasional (29-5%) + + + + HP:0002671 Basal cell carcinoma @@ -353367,52 +352267,62 @@ - - - HP:0002861 - Melanoma + + + HP:0006739 + Squamous cell carcinoma of the skin Occasional (29-5%) - - - HP:0005599 - Hypopigmentation of hair + + + HP:0012056 + Cutaneous melanoma - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0006739 - Squamous cell carcinoma of the skin + + + HP:0030856 + Posterior staphyloma Occasional (29-5%) - - - HP:0007730 - Iris hypopigmentation + + + HP:0200098 + Absent skin pigmentation - - Very frequent (99-80%) + + Occasional (29-5%) + + + + + + HP:0007481 + Hyperpigmented nevi + + + Very rare (<4-1%) - + 29050284[PMID]_26691042[PMID]_31199599[PMID] y y - 2016-06-01 00:00:00.0 + 2021-01-11 00:00:00.0 @@ -373270,75 +372180,6 @@ y 2016-06-01 00:00:00.0 - - - 89839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89839 - Epidermolysis bullosa simplex superficialis - - Disease - - - Disorder - - - - - HP:0001030 - Fragile skin - - - Very frequent (99-80%) - - - - - - HP:0001056 - Milia - - - Very frequent (99-80%) - - - - - - HP:0001075 - Atrophic scars - - - Very frequent (99-80%) - - - - - - HP:0006297 - Hypoplasia of dental enamel - - - Very frequent (99-80%) - - - - - - HP:0200041 - Skin erosion - - - Very frequent (99-80%) - - - - - - - y - y - 2016-06-01 00:00:00.0 - 88643 @@ -374748,95 +373589,6 @@ y 2016-06-01 00:00:00.0 - - - 157215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215 - Hereditary hypophosphatemic rickets with hypercalciuria - - Disease - - - Disorder - - - - - HP:0001324 - Muscle weakness - - - Frequent (79-30%) - - - - - - HP:0002148 - Hypophosphatemia - - - Very frequent (99-80%) - - - - - - HP:0002150 - Hypercalciuria - - - Very frequent (99-80%) - - - - - - HP:0002653 - Bone pain - - - Frequent (79-30%) - - - - - - HP:0002748 - Rickets - - - Very frequent (99-80%) - - - - - - HP:0002749 - Osteomalacia - - - Very frequent (99-80%) - - - - - - HP:0004322 - Short stature - - - Frequent (79-30%) - - - - - - - y - y - 2016-06-01 00:00:00.0 - 157801 @@ -374976,345 +373728,6 @@ y 2016-06-01 00:00:00.0 - - - 157850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 - Pantothenate kinase-associated neurodegeneration - - Disease - - - Disorder - - - - - HP:0000505 - Visual impairment - - - Occasional (29-5%) - - - - - - HP:0000716 - Depressivity - - - Occasional (29-5%) - - - - - - HP:0000722 - Obsessive-compulsive behavior - - - Occasional (29-5%) - - - - - - HP:0000726 - Dementia - - - Occasional (29-5%) - - - - - - HP:0001000 - Abnormality of skin pigmentation - - - Occasional (29-5%) - - - - - - HP:0001250 - Seizures - - - Occasional (29-5%) - - - - - - HP:0001257 - Spasticity - - - Frequent (79-30%) - - - - - - HP:0001260 - Dysarthria - - - Occasional (29-5%) - - - - - - HP:0001266 - Choreoathetosis - - - Frequent (79-30%) - - - - - - HP:0001288 - Gait disturbance - - - Very frequent (99-80%) - - - - - - HP:0001291 - Abnormal cranial nerve morphology - - - Frequent (79-30%) - - - - - - HP:0001337 - Tremor - - - Frequent (79-30%) - - - - - - HP:0001347 - Hyperreflexia - - - Frequent (79-30%) - - - - - - HP:0001373 - Joint dislocation - - - Occasional (29-5%) - - - - - - HP:0001508 - Failure to thrive - - - Occasional (29-5%) - - - - - - HP:0001618 - Dysphonia - - - Occasional (29-5%) - - - - - - HP:0001760 - Abnormality of the foot - - - Frequent (79-30%) - - - - - - HP:0001824 - Weight loss - - - Frequent (79-30%) - - - - - - HP:0002015 - Dysphagia - - - Frequent (79-30%) - - - - - - HP:0002019 - Constipation - - - Frequent (79-30%) - - - - - - HP:0002020 - Gastroesophageal reflux - - - Frequent (79-30%) - - - - - - HP:0002063 - Rigidity - - - Frequent (79-30%) - - - - - - HP:0002067 - Bradykinesia - - - Occasional (29-5%) - - - - - - HP:0002167 - Neurological speech impairment - - - Very frequent (99-80%) - - - - - - HP:0002205 - Recurrent respiratory infections - - - Frequent (79-30%) - - - - - - HP:0002304 - Akinesia - - - Occasional (29-5%) - - - - - - HP:0002376 - Developmental regression - - - Occasional (29-5%) - - - - - - HP:0003011 - Abnormality of the musculature - - - Occasional (29-5%) - - - - - - HP:0004326 - Cachexia - - - Occasional (29-5%) - - - - - - HP:0007730 - Iris hypopigmentation - - - Very frequent (99-80%) - - - - - - HP:0008770 - Obsessive-compulsive trait - - - Occasional (29-5%) - - - - - - HP:0100022 - Abnormality of movement - - - Very frequent (99-80%) - - - - - - - y - y - 2016-06-01 00:00:00.0 - 157965 @@ -409711,7 +408124,7 @@ HP:0000630 - Abnormality of retinal arteries + Abnormal retinal artery morphology Occasional (29-5%) @@ -419563,7 +417976,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Very frequent (99-80%) @@ -425941,7 +424354,7 @@ 261476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261476 - Xp21 microdeletion syndrome + Xp21 deletion syndrome Disease @@ -439498,7 +437911,7 @@ 158668 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158668 - Epidermolysis bullosa simplex due to plakophilin deficiency + Ectodermal dysplasia-skin fragility syndrome Disease @@ -439698,11 +438111,11 @@ 158676 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158676 Dominant dystrophic epidermolysis bullosa, nails only - - Disease + + Clinical subtype - - Disorder + + Subtype of disorder @@ -440084,7 +438497,7 @@ 158687 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687 - Lethal acantholytic epidermolysis bullosa + Lethal acantholytic erosive disorder Disease @@ -482725,7 +481138,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Very frequent (99-80%) @@ -505142,7 +503555,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Very frequent (99-80%) @@ -515101,7 +513514,7 @@ HP:0001102 - Angioid streaks of the retina + Angioid streaks of the fundus Frequent (79-30%) @@ -548737,7 +547150,7 @@ HP:0100828 - Increase in T cell count + Increased T cell count Very frequent (99-80%) @@ -551616,7 +550029,7 @@ HP:0100828 - Increase in T cell count + Increased T cell count Frequent (79-30%) @@ -570553,7 +568966,7 @@ Disorder - + HP:0000218 High palate @@ -570563,7 +568976,7 @@ - + HP:0000613 Photophobia @@ -570573,7 +568986,7 @@ - + HP:0000639 Nystagmus @@ -570583,7 +568996,7 @@ - + HP:0001098 Abnormal fundus morphology @@ -570593,7 +569006,7 @@ - + HP:0001107 Ocular albinism @@ -570603,7 +569016,7 @@ - + HP:0007663 Reduced visual acuity @@ -570613,7 +569026,7 @@ - + HP:0007750 Hypoplasia of the fovea @@ -589457,7 +587870,7 @@ HP:0005144 - Left ventricular septal hypertrophy + Ventricular septal hypertrophy Frequent (79-30%) @@ -623672,7 +622085,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Occasional (29-5%) @@ -651242,7 +649655,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Occasional (29-5%) @@ -651848,7 +650261,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Occasional (29-5%) @@ -661060,7 +659473,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Frequent (79-30%) @@ -661331,7 +659744,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Frequent (79-30%) @@ -664817,7 +663230,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Frequent (79-30%) @@ -725571,7 +723984,7 @@ 88618 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618 - Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency + S-adenosylhomocysteine hydrolase deficiency Disease @@ -730523,7 +728936,7 @@ Disorder - + HP:0000962 Hyperkeratosis @@ -730533,7 +728946,7 @@ - + HP:0000965 Cutis marmorata @@ -730543,7 +728956,7 @@ - + HP:0000988 Skin rash @@ -730553,7 +728966,7 @@ - + HP:0002923 Rheumatoid factor positive @@ -730563,7 +728976,7 @@ - + HP:0010702 Increased antibody level in blood @@ -730573,7 +728986,7 @@ - + HP:0011123 Inflammatory abnormality of the skin @@ -730583,7 +728996,7 @@ - + HP:0025131 Finger swelling @@ -730593,7 +729006,7 @@ - + HP:0025300 Malar rash @@ -730603,7 +729016,7 @@ - + HP:0030350 Erythematous papule @@ -730613,7 +729026,7 @@ - + HP:0030880 Raynaud phenomenon @@ -730623,7 +729036,7 @@ - + HP:0030899 Pruritis on hand @@ -730633,7 +729046,7 @@ - + HP:0200042 Skin ulcer @@ -730643,7 +729056,7 @@ - + HP:0002099 Asthma @@ -730653,7 +729066,7 @@ - + HP:0002725 Systemic lupus erythematosus @@ -730663,7 +729076,7 @@ - + HP:0003493 Antinuclear antibody positivity @@ -730673,7 +729086,7 @@ - + HP:0003613 Antiphospholipid antibody positivity @@ -730683,7 +729096,7 @@ - + HP:0007417 Discoid lupus rash @@ -730693,7 +729106,7 @@ - + HP:0012325 Chronic myelomonocytic leukemia @@ -737634,7 +736047,7 @@ HP:0030374 - Decreased memory B cell count + Decreased proportion of memory B cells Frequent (79-30%) @@ -738641,7 +737054,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Frequent (79-30%) @@ -755285,7 +753698,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Frequent (79-30%) @@ -755568,7 +753981,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Frequent (79-30%) @@ -757353,7 +755766,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Frequent (79-30%) @@ -759956,7 +758369,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Frequent (79-30%) @@ -760717,7 +759130,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Frequent (79-30%) @@ -760970,7 +759383,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Frequent (79-30%) @@ -763923,7 +762336,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Frequent (79-30%) @@ -764196,7 +762609,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Frequent (79-30%) @@ -764608,7 +763021,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Frequent (79-30%) @@ -777018,7 +775431,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Very rare (<4-1%) @@ -777207,7 +775620,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Occasional (29-5%) @@ -809873,7 +808286,7 @@ 468678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678 - Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome + White-Sutton syndrome Disease @@ -871329,11 +869742,11 @@ 251393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251393 Localized junctional epidermolysis bullosa, non-Herlitz type - - Clinical subtype + + Disease - - Subtype of disorder + + Disorder @@ -922150,7 +920563,7 @@ HP:0008180 - Mildly elevated creatine phosphokinase + Mildly elevated creatine kinase Occasional (29-5%) @@ -936209,18 +934622,8 @@ Disorder - - - - HP:0001410 - Decreased liver function - - - Very frequent (99-80%) - - - - + + HP:0002240 Hepatomegaly @@ -936230,7 +934633,7 @@ - + HP:0002910 Elevated hepatic transaminase @@ -936240,17 +934643,27 @@ - - - HP:0001394 - Cirrhosis + + + HP:0012379 + Abnormal enzyme/coenzyme activity - - Frequent (79-30%) + + Very frequent (99-80%) + + + + + + HP:0030272 + Abnormal erythrocyte enzyme activity + + + Very frequent (99-80%) - + HP:0001395 Hepatic fibrosis @@ -936260,7 +934673,7 @@ - + HP:0001510 Growth delay @@ -936270,7 +934683,7 @@ - + HP:0001943 Hypoglycemia @@ -936280,7 +934693,7 @@ - + HP:0001946 Ketosis @@ -936290,7 +934703,7 @@ - + HP:0002155 Hypertriglyceridemia @@ -936300,67 +934713,97 @@ - - - HP:0003077 - Hyperlipidemia + + + HP:0003124 + Hypercholesterolemia Frequent (79-30%) - - - HP:0003128 - Lactic acidosis + + + HP:0003162 + Fasting hypoglycemia Frequent (79-30%) - - - HP:0003162 - Fasting hypoglycemia + + + HP:0410175 + Hyperketonemia Frequent (79-30%) - - - HP:0003270 - Abdominal distention + + + HP:0000147 + Polycystic ovaries - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0004322 - Short stature + + + HP:0000823 + Delayed puberty - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0001252 - Muscular hypotonia + + + HP:0000858 + Irregular menstruation Occasional (29-5%) - + + + HP:0000876 + Oligomenorrhea + + + Occasional (29-5%) + + + + + + HP:0001249 + Intellectual disability + + + Occasional (29-5%) + + + + + + HP:0001263 + Global developmental delay + + + Occasional (29-5%) + + + + HP:0001396 Cholestasis @@ -936370,7 +934813,7 @@ - + HP:0001397 Hepatic steatosis @@ -936380,57 +934823,57 @@ - - - HP:0001744 - Splenomegaly + + + HP:0001508 + Failure to thrive Occasional (29-5%) - - - HP:0002040 - Esophageal varix + + + HP:0002194 + Delayed gross motor development Occasional (29-5%) - - - HP:0002149 - Hyperuricemia + + + HP:0002360 + Sleep disturbance Occasional (29-5%) - - - HP:0002173 - Hypoglycemic seizures + + + HP:0002719 + Recurrent infections Occasional (29-5%) - - - HP:0003124 - Hypercholesterolemia + + + HP:0002913 + Myoglobinuria Occasional (29-5%) - + HP:0003202 Skeletal muscle atrophy @@ -936440,17 +934883,67 @@ - - - HP:0012028 - Hepatocellular adenoma + + + HP:0003236 + Elevated serum creatine kinase + + + Occasional (29-5%) + + + + + + HP:0003323 + Progressive muscle weakness Occasional (29-5%) - + + + HP:0003326 + Myalgia + + + Occasional (29-5%) + + + + + + HP:0003394 + Muscle spasm + + + Occasional (29-5%) + + + + + + HP:0003546 + Exercise intolerance + + + Occasional (29-5%) + + + + + + HP:0004322 + Short stature + + + Occasional (29-5%) + + + + HP:0012378 Fatigue @@ -936460,17 +934953,27 @@ - - - HP:0030197 - Fatigable weakness of skeletal muscles + + + HP:0030232 + Increased sarcoplasmic glycogen Occasional (29-5%) - + + + HP:0100607 + Dysmenorrhea + + + Occasional (29-5%) + + + + HP:0000750 Delayed speech and language development @@ -936480,17 +934983,57 @@ - - - HP:0001249 - Intellectual disability + + + HP:0000939 + Osteoporosis + + + Very rare (<4-1%) + + + + + + HP:0001252 + Muscular hypotonia + + + Very rare (<4-1%) + + + + + + HP:0001394 + Cirrhosis + + + Very rare (<4-1%) + + + + + + HP:0001638 + Cardiomyopathy + + + Very rare (<4-1%) + + + + + + HP:0001744 + Splenomegaly Very rare (<4-1%) - + HP:0001903 Anemia @@ -936500,20 +935043,90 @@ - - - HP:0002194 - Delayed gross motor development + + + HP:0001947 + Renal tubular acidosis Very rare (<4-1%) - - - HP:0008947 - Infantile muscular hypotonia + + + HP:0002013 + Vomiting + + + Very rare (<4-1%) + + + + + + HP:0002014 + Diarrhea + + + Very rare (<4-1%) + + + + + + HP:0002018 + Nausea + + + Very rare (<4-1%) + + + + + + HP:0002040 + Esophageal varix + + + Very rare (<4-1%) + + + + + + HP:0003128 + Lactic acidosis + + + Very rare (<4-1%) + + + + + + HP:0004324 + Increased body weight + + + Very rare (<4-1%) + + + + + + HP:0006580 + Portal fibrosis + + + Very rare (<4-1%) + + + + + + HP:0012028 + Hepatocellular adenoma Very rare (<4-1%) @@ -936522,10 +935135,10 @@ - 29360628[PMID]_28627441[PMID]_25266922[PMID]_17689125[PMID] + 29360628[PMID]_28627441[PMID]_25266922[PMID]_17689125[PMID]_33317799[PMID]_21634085[PMID]_30659246[PMID]_25266922[PMID] y y - 2019-10-21 00:00:00.0 + 2021-01-18 00:00:00.0 @@ -964856,2048 +963469,2185 @@ y 2019-09-24 00:00:00.0 - - - 18 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=18 - Distal renal tubular acidosis - - Disease + + + 105 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105 + Atresia of urethra + + Morphological anomaly Disorder - - - - HP:0000121 - Nephrocalcinosis + + + + HP:0000076 + Vesicoureteral reflux Very frequent (99-80%) - - - HP:0001996 - Chronic metabolic acidosis + + + HP:0000083 + Renal insufficiency Very frequent (99-80%) - - - HP:0002900 - Hypokalemia + + + HP:0000010 + Recurrent urinary tract infections - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0004349 - Reduced bone mineral density + + + HP:0000021 + Megacystis - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0004918 - Hyperchloremic metabolic acidosis + + + HP:0000072 + Hydroureter - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0012405 - Hypocitraturia + + + HP:0000126 + Hydronephrosis - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0032066 - Decreased serum bicarbonate concentration + + + HP:0001562 + Oligohydramnios - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0000128 - Renal potassium wasting + + + HP:0003270 + Abdominal distention Frequent (79-30%) - - - HP:0000787 - Nephrolithiasis + + + HP:0004321 + Bladder fistula Frequent (79-30%) - - - HP:0001324 - Muscle weakness + + + HP:0010479 + Patent urachus Frequent (79-30%) - - - HP:0001508 - Failure to thrive + + + HP:0010955 + Dilatation of the bladder Frequent (79-30%) - - - HP:0001510 - Growth delay + + + HP:0000110 + Renal dysplasia - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0002150 - Hypercalciuria + + + HP:0001541 + Ascites + + + Occasional (29-5%) + + + + + + HP:0010444 + Pulmonary insufficiency + + + Occasional (29-5%) + + + + + + 19551712[PMID]_32978001[PMID]_29980359[PMID]_8149156[PMID] + y + y + 2021-01-12 00:00:00.0 + + + + 237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237 + Duplication of urethra + + Morphological anomaly + + + Disorder + + + + + HP:0000039 + Epispadias Frequent (79-30%) - - - HP:0003109 - Hyperphosphaturia + + + HP:0000047 + Hypospadias Frequent (79-30%) - - - HP:0004322 - Short stature + + + HP:0000076 + Vesicoureteral reflux Frequent (79-30%) - - - HP:0012608 - Hypermagnesiuria + + + HP:0012732 + Anorectal anomaly Frequent (79-30%) - - - HP:0000107 - Renal cyst + + + HP:0000010 + Recurrent urinary tract infections Occasional (29-5%) - - - HP:0000114 - Proximal tubulopathy + + + HP:0000020 + Urinary incontinence Occasional (29-5%) - - - HP:0000407 - Sensorineural hearing impairment + + + HP:0000041 + Chordee Occasional (29-5%) - - - HP:0001944 - Dehydration + + + HP:0000048 + Bifid scrotum Occasional (29-5%) - - - HP:0001959 - Polydipsia + + + HP:0000054 + Micropenis Occasional (29-5%) - - - HP:0002013 - Vomiting + + + HP:0001153 + Septate vagina Occasional (29-5%) - - - HP:0002014 - Diarrhea + + + HP:0001543 + Gastroschisis Occasional (29-5%) - - - HP:0002019 - Constipation + + + HP:0002023 + Anal atresia Occasional (29-5%) - - - HP:0002653 - Bone pain + + + HP:0003244 + Penile hypospadias Occasional (29-5%) - - - HP:0002659 - Increased susceptibility to fractures + + + HP:0003762 + Uterus didelphys Occasional (29-5%) - - - HP:0002747 - Respiratory insufficiency due to muscle weakness + + + HP:0008635 + Hypertrophy of the urinary bladder Occasional (29-5%) - - - HP:0002748 - Rickets + + + HP:0008665 + Clitoral hypertrophy Occasional (29-5%) - - - HP:0002749 - Osteomalacia + + + HP:0008706 + Distal urethral duplication Occasional (29-5%) - - - HP:0003126 - Low-molecular-weight proteinuria + + + HP:0008743 + Coronal hypospadias Occasional (29-5%) - - - HP:0003355 - Aminoaciduria + + + HP:0010447 + Anal fistula Occasional (29-5%) - - - HP:0004396 - Poor appetite + + + HP:0012227 + Urethral stricture Occasional (29-5%) - - - HP:0011387 - Enlarged vestibular aqueduct + + + HP:0012531 + Pain Occasional (29-5%) - - - HP:0011964 - Intermittent painful muscle spasms + + + HP:0012583 + Unilateral renal hypoplasia Occasional (29-5%) - - - HP:0012213 - Decreased glomerular filtration rate + + + HP:0025407 + Rectourethral fistula Occasional (29-5%) - - - HP:0001878 - Hemolytic anemia + + + HP:0025489 + Bladder duplication - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0003470 - Paralysis + + + HP:0100518 + Dysuria - - Very rare (<4-1%) + + Occasional (29-5%) + + + + + + HP:0100519 + Anuria + + + Occasional (29-5%) - 30139458[PMID]_31600044[PMID] + 27887914[PMID]_32063365[PMID]_32015628[PMID]_31571759[PMID] y y - 2020-12-16 00:00:00.0 + 2021-01-12 00:00:00.0 - - - 2088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 - Fanconi-Bickel syndrome + + + 725 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=725 + Continuous spikes and waves during sleep Disease Disorder - - - - HP:0001508 - Failure to thrive - - - Very frequent (99-80%) - - - - - - HP:0001947 - Renal tubular acidosis + + + + HP:0001250 + Seizures Very frequent (99-80%) - - - HP:0002148 - Hypophosphatemia + + + HP:0011182 + Interictal epileptiform activity Very frequent (99-80%) - - - HP:0003109 - Hyperphosphaturia + + + HP:0031491 + Continuous spike and waves during slow sleep Very frequent (99-80%) - - - HP:0004919 - Galactose intolerance + + + HP:0001249 + Intellectual disability - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0006568 - Increased hepatic glycogen content + + + HP:0002069 + Generalized tonic-clonic seizures - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0040270 - Impaired glucose tolerance + + + HP:0002349 + Focal aware seizure - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0500030 - Abnormal hepatic glycogen storage + + + HP:0002376 + Developmental regression - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0001510 - Growth delay + + + HP:0002384 + Focal impaired awareness seizure Frequent (79-30%) - - - HP:0001942 - Metabolic acidosis + + + HP:0006813 + Hemiclonic seizures Frequent (79-30%) - - - HP:0002150 - Hypercalciuria + + + HP:0007270 + Atypical absence seizure Frequent (79-30%) - - - HP:0002240 - Hepatomegaly + + + HP:0007359 + Focal-onset seizure Frequent (79-30%) - - - HP:0002748 - Rickets + + + HP:0011153 + Focal motor seizure Frequent (79-30%) - - - HP:0003076 - Glycosuria + + + HP:0012010 + EEG with frontal focal spike waves Frequent (79-30%) - - - HP:0003162 - Fasting hypoglycemia + + + HP:0012557 + EEG with centrotemporal focal spike waves Frequent (79-30%) - - - HP:0003270 - Abdominal distention + + + HP:0100543 + Cognitive impairment Frequent (79-30%) - - - HP:0011998 - Postprandial hyperglycemia + + + HP:0000718 + Aggressive behavior - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0000112 - Nephropathy + + + HP:0000729 + Autistic behavior Occasional (29-5%) - - - HP:0000121 - Nephrocalcinosis + + + HP:0001332 + Dystonia Occasional (29-5%) - - - HP:0000819 - Diabetes mellitus + + + HP:0001345 + Psychotic mentation Occasional (29-5%) - - - HP:0000938 - Osteopenia + + + HP:0002266 + Focal clonic seizure Occasional (29-5%) - - - HP:0001399 - Hepatic failure + + + HP:0002312 + Clumsiness Occasional (29-5%) - - - HP:0002155 - Hypertriglyceridemia + + + HP:0002333 + Motor deterioration Occasional (29-5%) - - - HP:0002909 - Generalized aminoaciduria + + + HP:0002381 + Aphasia Occasional (29-5%) - - - HP:0003155 - Elevated alkaline phosphatase + + + HP:0002487 + Hyperkinetic movements Occasional (29-5%) - - - HP:0006487 - Bowing of the long bones + + + HP:0009088 + Speech articulation difficulties Occasional (29-5%) - - - HP:0020110 - Bone fracture + + + HP:0010819 + Atonic seizure Occasional (29-5%) - - - HP:0031956 - Elevated serum aspartate aminotransferase + + + HP:0011098 + Speech apraxia Occasional (29-5%) - - - HP:0031964 - Elevated serum alanine aminotransferase + + + HP:0011147 + Typical absence seizure Occasional (29-5%) - - - HP:0000295 - Doll-like facies + + + HP:0011150 + Myoclonic absence - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0001402 - Hepatocellular carcinoma + + + HP:0012001 + EEG with generalized polyspikes - - Very rare (<4-1%) + + Occasional (29-5%) - 29624224[PMID]_30950137[PMID] + 33132036[PMID]_27683935[PMID]_31262717[PMID] y y - 2020-12-15 00:00:00.0 + 2021-01-13 00:00:00.0 - - - 135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=135 - CACH syndrome + + + 26792 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26792 + Short chain acyl-CoA dehydrogenase deficiency Disease Disorder - - - - HP:0006978 - Dysmyelinating leukodystrophy - - - Very frequent (99-80%) - - - - - - HP:0410263 - Brain imaging abnormality - - - Very frequent (99-80%) - - - - - - HP:0000648 - Optic atrophy + + + + HP:0001508 + Failure to thrive Frequent (79-30%) - - - HP:0000737 - Irritability + + + HP:0001942 + Metabolic acidosis Frequent (79-30%) - - - HP:0001250 - Seizures + + + HP:0003219 + Ethylmalonic aciduria Frequent (79-30%) - - - HP:0001257 - Spasticity + + + HP:0008947 + Infantile muscular hypotonia Frequent (79-30%) - - - HP:0001272 - Cerebellar atrophy + + + HP:0011968 + Feeding difficulties Frequent (79-30%) - - - HP:0001347 - Hyperreflexia + + + HP:0012758 + Neurodevelopmental delay Frequent (79-30%) - - - HP:0002059 - Cerebral atrophy + + + HP:0045045 + Elevated plasma acylcarnitine levels Frequent (79-30%) - - - HP:0002070 - Limb ataxia + + + HP:0410153 + Increased level of methylsuccinic acid in urine Frequent (79-30%) - - - HP:0002078 - Truncal ataxia + + + HP:0000708 + Behavioral abnormality - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0002344 - Progressive neurologic deterioration + + + HP:0000750 + Delayed speech and language development - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0006855 - Cerebellar vermis atrophy + + + HP:0001250 + Seizures - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0007366 - Atrophy/Degeneration affecting the brainstem + + + HP:0001254 + Lethargy - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0008209 - Premature ovarian insufficiency + + + HP:0001332 + Dystonia - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0000089 - Renal hypoplasia + + + HP:0001397 + Hepatic steatosis Occasional (29-5%) - - - HP:0000133 - Gonadal dysgenesis + + + HP:0001638 + Cardiomyopathy Occasional (29-5%) - - - HP:0000252 - Microcephaly + + + HP:0001999 + Abnormal facial shape Occasional (29-5%) - - - HP:0000518 - Cataract + + + HP:0002098 + Respiratory distress Occasional (29-5%) - - - HP:0000618 - Blindness + + + HP:0003198 + Myopathy Occasional (29-5%) - - - HP:0000708 - Behavioral abnormality + + + HP:0006929 + Hypoglycemic encephalopathy Occasional (29-5%) - - - HP:0000741 - Apathy + + + HP:0012734 + Ketotic hypoglycemia Occasional (29-5%) - - - HP:0000786 - Primary amenorrhea + + + HP:0000252 + Microcephaly - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0000869 - Secondary amenorrhea + + + HP:0000648 + Optic atrophy - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001260 - Dysarthria + + + HP:0001276 + Hypertonia - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001264 - Spastic diplegia + + + HP:0001511 + Intrauterine growth retardation - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001269 - Hemiparesis + + + 21938826[PMID]_18054510[PMID]_18523805[PMID] + y + y + 2021-01-14 00:00:00.0 + + + + 35710 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710 + Glucose-galactose malabsorption + + Disease + + + Disorder + + + + + HP:0001508 + Failure to thrive - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0001270 - Motor delay + + + HP:0001824 + Weight loss - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0001298 - Encephalopathy + + + HP:0001944 + Dehydration - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0001310 - Dysmetria + + + HP:0002014 + Diarrhea - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0001371 - Flexion contracture + + + HP:0003228 + Hypernatremia - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0001433 - Hepatosplenomegaly + + + HP:0003270 + Abdominal distention - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0001510 - Growth delay + + + HP:0004395 + Malnutrition - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0001511 - Intrauterine growth retardation + + + HP:0000083 + Renal insufficiency Occasional (29-5%) - - - HP:0001558 - Decreased fetal movement + + + HP:0000787 + Nephrolithiasis Occasional (29-5%) - - - HP:0001562 - Oligohydramnios + + + HP:0002013 + Vomiting Occasional (29-5%) - - - HP:0001733 - Pancreatitis + + + HP:0003072 + Hypercalcemia Occasional (29-5%) - - - HP:0002013 - Vomiting + + + HP:0030143 + Hyperactive bowel sounds Occasional (29-5%) - - - HP:0002015 - Dysphagia + + + HP:0000790 + Hematuria - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0002076 - Migraine + + + HP:0001945 + Fever - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0002315 - Headache + + + 32946683[PMID]_20486940[PMID] + y + y + 2021-01-14 00:00:00.0 + + + + 43116 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43116 + Serotonin syndrome + + Disease + + + Disorder + + + + + HP:0002270 + Abnormality of the autonomic nervous system - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0002804 - Arthrogryposis multiplex congenita + + + HP:0000711 + Restlessness - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0006956 - Dilation of lateral ventricles + + + HP:0000737 + Irritability - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0007361 - Abnormality of the pons + + + HP:0000739 + Anxiety - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0008288 - Nonketotic hyperglycinemia + + + HP:0001268 + Mental deterioration + + + Frequent (79-30%) + + + + + + HP:0001289 + Confusion + + + Frequent (79-30%) + + + + + + HP:0001336 + Myoclonus + + + Frequent (79-30%) + + + + + + HP:0001337 + Tremor + + + Frequent (79-30%) + + + + + + HP:0001649 + Tachycardia + + + Frequent (79-30%) + + + + + + HP:0002014 + Diarrhea + + + Frequent (79-30%) + + + + + + HP:0002018 + Nausea + + + Frequent (79-30%) + + + + + + HP:0100785 + Insomnia + + + Frequent (79-30%) + + + + + + HP:0000570 + Abnormal saccadic eye movements Occasional (29-5%) - - - HP:0008947 - Infantile muscular hypotonia + + + HP:0000713 + Agitation Occasional (29-5%) - - - HP:0011342 - Mild global developmental delay + + + HP:0000822 + Hypertension Occasional (29-5%) - - - HP:0011968 - Feeding difficulties + + + HP:0000975 + Hyperhidrosis Occasional (29-5%) - - - HP:0012690 - T2 hypointense thalamus + + + HP:0001250 + Seizures Occasional (29-5%) - - - HP:0012704 - Widened subarachnoid space + + + HP:0001347 + Hyperreflexia Occasional (29-5%) - - - HP:0032398 - Dysgyria + + + HP:0002169 + Clonus Occasional (29-5%) - - - HP:0100543 - Cognitive impairment + + + HP:0002789 + Tachypnea Occasional (29-5%) - - - HP:0100653 - Optic neuritis + + + HP:0003128 + Lactic acidosis Occasional (29-5%) - - - HP:0004481 - Progressive macrocephaly + + + HP:0011499 + Mydriasis - - Very rare (<4-1%) + + Occasional (29-5%) - - - 29740943[PMID]_20301435[PMID] - y - y - 2020-12-18 00:00:00.0 - - - - 1018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 - X-linked Alport syndrome-diffuse leiomyomatosis - - Clinical subtype - - - Subtype of disorder - - - - - HP:0002015 - Dysphagia + + + HP:0032044 + Decreased vigilance - - Very frequent (99-80%) + + Occasional (29-5%) - - - HP:0002031 - Abnormal esophagus morphology + + + HP:0000738 + Hallucinations - - Very frequent (99-80%) + + Very rare (<4-1%) - - - HP:0012718 - Morphological abnormality of the gastrointestinal tract + + + HP:0001259 + Coma - - Very frequent (99-80%) + + Very rare (<4-1%) - - - HP:0100751 - Esophageal neoplasm + + + HP:0001276 + Hypertonia - - Very frequent (99-80%) + + Very rare (<4-1%) - - - HP:0000093 - Proteinuria + + + HP:0001399 + Hepatic failure - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0000112 - Nephropathy + + + HP:0001919 + Acute kidney injury - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0000407 - Sensorineural hearing impairment + + + HP:0001945 + Fever - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0000478 - Abnormality of the eye + + + HP:0002063 + Rigidity - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0000518 - Cataract + + + HP:0002615 + Hypotension - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0000790 - Hematuria + + + HP:0003201 + Rhabdomyolysis - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0001508 - Failure to thrive + + + HP:0005521 + Disseminated intravascular coagulation - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0002013 - Vomiting + + + HP:0031258 + Delirium - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0002020 - Gastroesophageal reflux + + + 30243558[PMID]_30315014[PMID]_31075831[PMID] + y + y + 2021-01-14 00:00:00.0 + + + + 45452 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45452 + Idiopathic neonatal atrial flutter + + Disease + + + Disorder + + + + + HP:0003115 + Abnormal EKG - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0002571 - Achalasia + + + HP:0004755 + Supraventricular tachycardia - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0003262 - Smooth muscle antibody positivity + + + HP:0005150 + Abnormal atrioventricular conduction - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0006756 - Diffuse leiomyomatosis + + + HP:0011675 + Arrhythmia - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0010460 - Abnormality of the female genitalia + + + HP:0002789 + Tachypnea Frequent (79-30%) - - - HP:0012622 - Chronic kidney disease + + + HP:0004763 + Paroxysmal supraventricular tachycardia Frequent (79-30%) - - - HP:0100749 - Chest pain + + + HP:0005162 + Left ventricular dysfunction Frequent (79-30%) - - - HP:0100771 - Hypoperistalsis + + + HP:0012664 + Reduced ejection fraction Frequent (79-30%) - - - HP:0410281 - Dyspepsia + + + HP:0025074 + Abnormal QRS complex Frequent (79-30%) - - - HP:0000491 - Keratitis + + + HP:0001520 + Large for gestational age Occasional (29-5%) - - - HP:0000545 - Myopia + + + HP:0001789 + Hydrops fetalis Occasional (29-5%) - - - HP:0001824 - Weight loss + + + HP:0002098 + Respiratory distress Occasional (29-5%) - - - HP:0002094 - Dyspnea + + + HP:0008872 + Feeding difficulties in infancy Occasional (29-5%) - - - HP:0002205 - Recurrent respiratory infections + + + HP:0009800 + Maternal diabetes Occasional (29-5%) - - - HP:0003774 - Stage 5 chronic kidney disease + + + HP:0025116 + Fetal distress Occasional (29-5%) - - - HP:0006524 - Tracheobronchial leiomyomatosis + + + 29706767 [PMID]_263874[PMID]_9616850[PMID]_30511544[PMID]_32366806[PMID] + y + y + 2021-01-14 00:00:00.0 + + + + 352 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352 + Galactosemia + + Category + + + Group of disorders + + + + + HP:0012024 + Hypergalactosemia - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0010450 - Esophageal stenosis + + + HP:0012379 + Abnormal enzyme/coenzyme activity - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0010614 - Fibroma + + + HP:0012537 + Food intolerance - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0010784 - Uterine neoplasm + + + HP:0030272 + Abnormal erythrocyte enzyme activity - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0011501 - Anterior lenticonus + + + HP:0410061 + Increased level of galactitol in plasma - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0011951 - Aspiration pneumonia + + + HP:0000028 + Cryptorchidism - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0012252 - Abnormal respiratory system morphology + + + HP:0000144 + Decreased fertility - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0012735 - Cough + + + HP:0000518 + Cataract - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0030416 - Vulvar neoplasm + + + HP:0000750 + Delayed speech and language development - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0032141 - Precordial pain + + + HP:0000786 + Primary amenorrhea - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0040288 - Nasogastric tube feeding + + + HP:0000869 + Secondary amenorrhea - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0100650 - Vaginal neoplasm + + + HP:0000876 + Oligomenorrhea - - Occasional (29-5%) + + Frequent (79-30%) - - - 3153032[PMID]_30322718[PMID]_23765124[PMID]_28275241[PMID] - y - y - 2020-12-17 00:00:00.0 - - - - 2302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2302 - Asbestos intoxication - - Disease - - - Disorder - - - - - HP:0002086 - Abnormality of the respiratory system + + + HP:0000952 + Jaundice Frequent (79-30%) - - - HP:0002091 - Restrictive ventilatory defect + + + HP:0001256 + Intellectual disability, mild Frequent (79-30%) - - - HP:0002094 - Dyspnea + + + HP:0001260 + Dysarthria Frequent (79-30%) - - - HP:0002207 - Diffuse reticular or finely nodular infiltrations + + + HP:0001328 + Specific learning disability Frequent (79-30%) - - - HP:0002792 - Reduced vital capacity + + + HP:0001399 + Hepatic failure Frequent (79-30%) - - - HP:0002875 - Exertional dyspnea + + + HP:0002013 + Vomiting Frequent (79-30%) - - - HP:0003546 - Exercise intolerance + + + HP:0002071 + Abnormality of extrapyramidal motor function Frequent (79-30%) - - - HP:0006530 - Interstitial pulmonary abnormality + + + HP:0002174 + Postural tremor Frequent (79-30%) - - - HP:0030874 - Oxygen desaturation on exertion + + + HP:0002240 + Hepatomegaly Frequent (79-30%) - - - HP:0031246 - Nonproductive cough + + + HP:0002345 + Action tremor Frequent (79-30%) - - - HP:0031631 - Subpleural honeycombing + + + HP:0004302 + Functional motor deficit Frequent (79-30%) - - - HP:0031944 - Pleural thickening + + + HP:0004349 + Reduced bone mineral density Frequent (79-30%) - - - HP:0031998 - Late inspiratory crackles + + + HP:0008209 + Premature ovarian insufficiency Frequent (79-30%) - - - HP:0032341 - Reduced forced vital capacity + + + HP:0009088 + Speech articulation difficulties Frequent (79-30%) - - - HP:0045051 - Decreased DLCO + + + HP:0011098 + Speech apraxia Frequent (79-30%) - - - HP:0000961 - Cyanosis + + + HP:0012758 + Neurodevelopmental delay - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0001648 - Cor pulmonale + + + HP:0030353 + Decreased serum insulin-like growth factor 1 - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0001708 - Right ventricular failure + + + HP:0100543 + Cognitive impairment - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0002206 - Pulmonary fibrosis + + + HP:0000083 + Renal insufficiency Occasional (29-5%) - - - HP:0002878 - Respiratory failure + + + HP:0001251 + Ataxia Occasional (29-5%) - - - HP:0012418 - Hypoxemia + + + HP:0001254 + Lethargy Occasional (29-5%) - - - HP:0025179 - Ground-glass opacification on pulmonary HRCT + + + HP:0001288 + Gait disturbance Occasional (29-5%) - - - HP:0030828 - Wheezing + + + HP:0001298 + Encephalopathy Occasional (29-5%) - - - HP:0030849 - Hepatojugular reflux + + + HP:0001332 + Dystonia Occasional (29-5%) - - - HP:0030879 - Interlobular septal thickening on pulmonary HRCT + + + HP:0001394 + Cirrhosis Occasional (29-5%) - - - HP:0031352 - Chest tightness + + + HP:0001508 + Failure to thrive Occasional (29-5%) - - - HP:0032016 - Abnormal sputum + + + HP:0001892 + Abnormal bleeding Occasional (29-5%) - - - HP:0100749 - Chest pain + + + HP:0001928 + Abnormality of coagulation Occasional (29-5%) - - - HP:0100759 - Clubbing of fingers + + + HP:0002014 + Diarrhea Occasional (29-5%) - - - HP:0000969 - Edema + + + HP:0002141 + Gait imbalance - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0001685 - Myocardial fibrosis + + + HP:0002910 + Elevated hepatic transaminase - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0030078 - Lung adenocarcinoma + + + HP:0011968 + Feeding difficulties - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0100001 - Malignant mesothelioma + + + HP:0100806 + Sepsis - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0100721 - Mediastinal lymphadenopathy + + + HP:0001250 + Seizures Very rare (<4-1%) - - - HP:0100750 - Atelectasis + + + HP:0001541 + Ascites Very rare (<4-1%) @@ -966906,683 +965656,633 @@ - 9012357[PMID]_21281828[PMID]_30753424[PMID] + 29409891[PMID]_20301691[PMID]_31575690[PMID] y y - 2020-12-04 00:00:00.0 + 2021-01-15 00:00:00.0 - - - 1708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1708 - Mosaic trisomy 16 - - Malformation syndrome + + + 79237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237 + Galactokinase deficiency + + Disease Disorder - - - - HP:0001511 - Intrauterine growth retardation + + + + HP:0012024 + Hypergalactosemia Very frequent (99-80%) - - - HP:0001518 - Small for gestational age + + + HP:0012379 + Abnormal enzyme/coenzyme activity - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0001622 - Premature birth + + + HP:0410061 + Increased level of galactitol in plasma - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0001627 - Abnormal heart morphology + + + HP:0410062 + Increased level of galactitol in urine - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0100602 - Preeclampsia + + + HP:0000518 + Cataract Frequent (79-30%) - - - HP:0000047 - Hypospadias + + + HP:0100018 + Nuclear cataract - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0000085 - Horseshoe kidney + + + HP:0000815 + Hypergonadotropic hypogonadism Occasional (29-5%) - - - HP:0000119 - Abnormality of the genitourinary system + + + HP:0000842 + Hyperinsulinemia Occasional (29-5%) - - - HP:0000750 - Delayed speech and language development + + + HP:0001249 + Intellectual disability Occasional (29-5%) - - - HP:0000765 - Abnormality of the thorax + + + HP:0001270 + Motor delay Occasional (29-5%) - - - HP:0001159 - Syndactyly + + + HP:0001433 + Hepatosplenomegaly Occasional (29-5%) - - - HP:0001195 - Single umbilical artery + + + HP:0001518 + Small for gestational age Occasional (29-5%) - - - HP:0001263 - Global developmental delay + + + HP:0002240 + Hepatomegaly Occasional (29-5%) - - - HP:0001629 - Ventricular septal defect + + + HP:0008209 + Premature ovarian insufficiency Occasional (29-5%) - - - HP:0001631 - Atrial septal defect + + + HP:0011098 + Speech apraxia Occasional (29-5%) - - - HP:0001643 - Patent ductus arteriosus + + + HP:0000252 + Microcephaly - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0002011 - Morphological abnormality of the central nervous system + + + HP:0000407 + Sensorineural hearing impairment - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0002089 - Pulmonary hypoplasia + + + HP:0001250 + Seizures - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0004484 - Craniofacial asymmetry + + + HP:0001508 + Failure to thrive - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0006267 - Large placenta - - - Occasional (29-5%) - - - - - - HP:0009800 - Maternal diabetes - - - Occasional (29-5%) - - - - - - HP:0011024 - Abnormality of the gastrointestinal tract - - - Occasional (29-5%) - - - - - - HP:0011471 - Gastrostomy tube feeding in infancy - - - Occasional (29-5%) - - - - - - HP:0030084 - Clinodactyly - - - Occasional (29-5%) - - - - - - HP:0100555 - Asymmetric growth + + + HP:0001622 + Premature birth - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0000154 - Wide mouth + + + HP:0001943 + Hypoglycemia Very rare (<4-1%) - - - HP:0000365 - Hearing impairment + + + HP:0002361 + Psychomotor deterioration Very rare (<4-1%) - - - HP:0000366 - Abnormality of the nose + + + HP:0003124 + Hypercholesterolemia Very rare (<4-1%) - - - HP:0000954 - Single transverse palmar crease + + + HP:0004431 + Complement deficiency Very rare (<4-1%) - - - HP:0001250 - Seizures + + + HP:0011968 + Feeding difficulties Very rare (<4-1%) - - - HP:0001545 - Anteriorly placed anus + + + HP:0012768 + Neonatal asphyxia Very rare (<4-1%) - - - HP:0001680 - Coarctation of aorta + + + 31575690 [PMID]_32809518[PMID]_12705493[PMID] + y + y + 2021-01-15 00:00:00.0 + + + + 79239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 + Classic galactosemia + + Disease + + + Disorder + + + + + HP:0000707 + Abnormality of the nervous system - - Very rare (<4-1%) + + Very frequent (99-80%) - - - HP:0002088 - Abnormal lung morphology + + + HP:0003251 + Male infertility - - Very rare (<4-1%) + + Very frequent (99-80%) - - - HP:0002245 - Meckel diverticulum + + + HP:0012379 + Abnormal enzyme/coenzyme activity - - Very rare (<4-1%) + + Very frequent (99-80%) - - - HP:0003319 - Abnormality of the cervical spine + + + HP:0030272 + Abnormal erythrocyte enzyme activity - - Very rare (<4-1%) + + Very frequent (99-80%) - - - HP:0005587 - Profuse pigmented skin lesions + + + HP:0000518 + Cataract - - Very rare (<4-1%) + + Frequent (79-30%) - - - HP:0005773 - Short forearm + + + HP:0000750 + Delayed speech and language development - - Very rare (<4-1%) + + Frequent (79-30%) - - - HP:0009778 - Short thumb + + + HP:0000786 + Primary amenorrhea - - Very rare (<4-1%) + + Frequent (79-30%) - - - HP:0011470 - Nasogastric tube feeding in infancy + + + HP:0000823 + Delayed puberty - - Very rare (<4-1%) + + Frequent (79-30%) - - - HP:0011640 - Single coronary artery origin + + + HP:0000868 + Decreased fertility in females - - Very rare (<4-1%) + + Frequent (79-30%) - - - HP:0012372 - Abnormal eye morphology + + + HP:0000869 + Secondary amenorrhea - - Very rare (<4-1%) + + Frequent (79-30%) - - - HP:0031703 - Abnormal ear morphology + + + HP:0000876 + Oligomenorrhea - - Very rare (<4-1%) + + Frequent (79-30%) - - - HP:0100864 - Short femoral neck + + + HP:0000952 + Jaundice - - Very rare (<4-1%) + + Frequent (79-30%) - - - 12624135[PLMID]_28383546[PMID]_9880211[PMID] - y - y - 2020-12-04 00:00:00.0 - - - - 801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=801 - Scleroderma - - Clinical group - - - Group of disorders - - - - - HP:0001072 - Thickened skin + + + HP:0001256 + Intellectual disability, mild - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0002829 - Arthralgia + + + HP:0001263 + Global developmental delay - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0002960 - Autoimmunity + + + HP:0001268 + Mental deterioration - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0003326 - Myalgia + + + HP:0001328 + Specific learning disability - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0003493 - Antinuclear antibody positivity + + + HP:0001399 + Hepatic failure - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0030880 - Raynaud phenomenon + + + HP:0001928 + Abnormality of coagulation - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0031359 - Cutaneous sclerotic plaque + + + HP:0002013 + Vomiting - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0000160 - Narrow mouth + + + HP:0002174 + Postural tremor Frequent (79-30%) - - - HP:0000716 - Depressivity + + + HP:0002240 + Hepatomegaly Frequent (79-30%) - - - HP:0001324 - Muscle weakness + + + HP:0002345 + Action tremor Frequent (79-30%) - - - HP:0003198 - Myopathy + + + HP:0002910 + Elevated hepatic transaminase Frequent (79-30%) - - - HP:0003236 - Elevated serum creatine kinase + + + HP:0006977 + Grammar-specific speech disorder Frequent (79-30%) - - - HP:0011838 - Sclerodactyly + + + HP:0008209 + Premature ovarian insufficiency Frequent (79-30%) - - - HP:0012531 - Pain + + + HP:0009088 + Speech articulation difficulties Frequent (79-30%) - - - HP:0025131 - Finger swelling + + + HP:0012537 + Food intolerance Frequent (79-30%) - - - HP:0030859 - Topoisomerase I antibody positivity + + + HP:0030353 + Decreased serum insulin-like growth factor 1 Frequent (79-30%) - - - HP:0000491 - Keratitis + + + HP:0000028 + Cryptorchidism Occasional (29-5%) - - - HP:0000554 - Uveitis + + + HP:0000716 + Depressivity Occasional (29-5%) - - - HP:0000739 - Anxiety + + + HP:0000729 + Autistic behavior Occasional (29-5%) - - - HP:0000966 - Hypohidrosis + + + HP:0000739 + Anxiety Occasional (29-5%) - - - HP:0000989 - Pruritus + + + HP:0000939 + Osteoporosis Occasional (29-5%) - + HP:0001250 Seizures @@ -967592,530 +966292,689 @@ - - - HP:0001279 - Syncope + + + HP:0001251 + Ataxia Occasional (29-5%) - - - HP:0001297 - Stroke + + + HP:0001254 + Lethargy Occasional (29-5%) - - - HP:0001369 - Arthritis + + + HP:0001260 + Dysarthria Occasional (29-5%) - - - HP:0001371 - Flexion contracture + + + HP:0001288 + Gait disturbance Occasional (29-5%) - - - HP:0001596 - Alopecia + + + HP:0001298 + Encephalopathy Occasional (29-5%) - - - HP:0001701 - Pericarditis + + + HP:0001332 + Dystonia Occasional (29-5%) - - - HP:0001708 - Right ventricular failure + + + HP:0001943 + Hypoglycemia Occasional (29-5%) - - - HP:0001919 - Acute kidney injury + + + HP:0002014 + Diarrhea Occasional (29-5%) - - - HP:0002020 - Gastroesophageal reflux + + + HP:0002141 + Gait imbalance Occasional (29-5%) - - - HP:0002092 - Pulmonary arterial hypertension + + + HP:0002311 + Incoordination Occasional (29-5%) - - - HP:0002094 - Dyspnea + + + HP:0002312 + Clumsiness Occasional (29-5%) - - - HP:0002206 - Pulmonary fibrosis + + + HP:0004349 + Reduced bone mineral density Occasional (29-5%) - - - HP:0002244 - Abnormality of the small intestine + + + HP:0007018 + Attention deficit hyperactivity disorder Occasional (29-5%) - - - HP:0002250 - Abnormal large intestine morphology + + + HP:0011098 + Speech apraxia Occasional (29-5%) - - - HP:0002315 - Headache + + + HP:0011446 + Abnormality of higher mental function Occasional (29-5%) - - - HP:0002577 - Abnormality of the stomach + + + HP:0011968 + Feeding difficulties Occasional (29-5%) - - - HP:0002584 - Intestinal bleeding + + + HP:0020110 + Bone fracture Occasional (29-5%) - - - HP:0002604 - Gastrointestinal telangiectasia + + + HP:0100512 + Low levels of vitamin D Occasional (29-5%) - - - HP:0002754 - Osteomyelitis + + + HP:0100806 + Sepsis Occasional (29-5%) - - - HP:0005590 - Spotty hypopigmentation + + + HP:0001541 + Ascites - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0006121 - Acral ulceration + + + 31029175[PMID]_20301691[PMID] + y + y + 2021-01-18 00:00:00.0 + + + + 370 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370 + Glycogen storage disease due to phosphorylase kinase deficiency + + Clinical group + + + Group of disorders + + + + + HP:0012379 + Abnormal enzyme/coenzyme activity - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0006261 - Abnormal phalangeal joint morphology of the hand + + + HP:0030272 + Abnormal erythrocyte enzyme activity + + + Very frequent (99-80%) + + + + + + HP:0000707 + Abnormality of the nervous system + + + Frequent (79-30%) + + + + + + HP:0001397 + Hepatic steatosis + + + Frequent (79-30%) + + + + + + HP:0001508 + Failure to thrive + + + Frequent (79-30%) + + + + + + HP:0001510 + Growth delay + + + Frequent (79-30%) + + + + + + HP:0001946 + Ketosis + + + Frequent (79-30%) + + + + + + HP:0002013 + Vomiting + + + Frequent (79-30%) + + + + + + HP:0002014 + Diarrhea + + + Frequent (79-30%) + + + + + + HP:0002155 + Hypertriglyceridemia + + + Frequent (79-30%) + + + + + + HP:0002194 + Delayed gross motor development + + + Frequent (79-30%) + + + + + + HP:0002240 + Hepatomegaly + + + Frequent (79-30%) + + + + + + HP:0002910 + Elevated hepatic transaminase + + + Frequent (79-30%) + + + + + + HP:0003124 + Hypercholesterolemia + + + Frequent (79-30%) + + + + + + HP:0003162 + Fasting hypoglycemia + + + Frequent (79-30%) + + + + + + HP:0000147 + Polycystic ovaries Occasional (29-5%) - - - HP:0006530 - Interstitial pulmonary abnormality + + + HP:0000823 + Delayed puberty Occasional (29-5%) - - - HP:0007141 - Sensorimotor neuropathy + + + HP:0000858 + Irregular menstruation Occasional (29-5%) - - - HP:0007400 - Irregular hyperpigmentation + + + HP:0000876 + Oligomenorrhea Occasional (29-5%) - - - HP:0009771 - Osteolytic defects of the phalanges of the hand + + + HP:0001252 + Muscular hypotonia Occasional (29-5%) - - - HP:0011024 - Abnormality of the gastrointestinal tract + + + HP:0001324 + Muscle weakness Occasional (29-5%) - - - HP:0011799 - Abnormality of facial soft tissue + + + HP:0001396 + Cholestasis Occasional (29-5%) - - - HP:0012622 - Chronic kidney disease + + + HP:0002360 + Sleep disturbance Occasional (29-5%) - - - HP:0012819 - Myocarditis + + + HP:0002913 + Myoglobinuria Occasional (29-5%) - - - HP:0025520 - Calcinosis cutis + + + HP:0003202 + Skeletal muscle atrophy Occasional (29-5%) - - - HP:0030873 - Anticentromere antibody positivity + + + HP:0003236 + Elevated serum creatine kinase Occasional (29-5%) - - - HP:0030890 - Hyperintensity of cerebral white matter on MRI + + + HP:0003323 + Progressive muscle weakness Occasional (29-5%) - - - HP:0031293 - Digital pitting scar + + + HP:0003326 + Myalgia Occasional (29-5%) - - - HP:0031329 - Interstitial cardiac fibrosis + + + HP:0003394 + Muscle spasm Occasional (29-5%) - - - HP:0100534 - Episcleritis + + + HP:0003546 + Exercise intolerance Occasional (29-5%) - - - HP:0100543 - Cognitive impairment + + + HP:0012378 + Fatigue Occasional (29-5%) - - - HP:0100580 - Barrett esophagus + + + HP:0030232 + Increased sarcoplasmic glycogen Occasional (29-5%) - - - HP:0100661 - Trigeminal neuralgia + + + HP:0100607 + Dysmenorrhea Occasional (29-5%) - - - HP:0000763 - Sensory neuropathy + + + HP:0000750 + Delayed speech and language development Very rare (<4-1%) - - - HP:0002059 - Cerebral atrophy + + + HP:0001394 + Cirrhosis Very rare (<4-1%) - - - HP:0002176 - Spinal cord compression + + + HP:0001395 + Hepatic fibrosis Very rare (<4-1%) - - - HP:0002326 - Transient ischemic attack + + + HP:0001402 + Hepatocellular carcinoma Very rare (<4-1%) - - - HP:0007256 - Abnormal pyramidal sign + + + HP:0001627 + Abnormal heart morphology Very rare (<4-1%) - - - HP:0010628 - Facial palsy + + + HP:0001638 + Cardiomyopathy Very rare (<4-1%) - - - HP:0012185 - Constrictive median neuropathy + + + HP:0001744 + Splenomegaly Very rare (<4-1%) - - - HP:0012486 - Myelitis + + + HP:0001947 + Renal tubular acidosis Very rare (<4-1%) - - - HP:0025533 - Peau d'orange + + + HP:0002040 + Esophageal varix Very rare (<4-1%) - - - HP:0032018 - Multiple mononeuropathy + + + HP:0003201 + Rhabdomyolysis Very rare (<4-1%) - - - HP:0032061 - Hypereosinophilia + + + HP:0003325 + Limb-girdle muscle weakness Very rare (<4-1%) - - - HP:0045054 - Brachial plexus neuropathy + + + HP:0005144 + Ventricular septal hypertrophy Very rare (<4-1%) - - - HP:0100537 - Fasciitis + + + HP:0006580 + Portal fibrosis Very rare (<4-1%) - - - HP:0100758 - Gangrene + + + HP:0012028 + Hepatocellular adenoma Very rare (<4-1%) @@ -968124,2241 +966983,2613 @@ - 32147386[PMID]_ 23827688[PMID]_26577237[PMID]_28792092[PMID] + 30659246[PMID]_21634085[PMID] y y - 2020-12-03 00:00:00.0 + 2021-01-18 00:00:00.0 - - - 3467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467 - Hereditary xanthinuria + + + 65250 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65250 + Perineural cyst Disease Disorder - - - - HP:0003537 - Hypouricemia + + + + HP:0025643 + Tarlov cyst - - Very frequent (99-80%) + + Obligate (100%) - - - HP:0011935 - Decreased urinary urate + + + HP:0003457 + EMG abnormality Very frequent (99-80%) - - - HP:0000791 - Uric acid nephrolithiasis + + + HP:0003419 + Low back pain Frequent (79-30%) - - - HP:0000804 - Xanthine nephrolithiasis + + + HP:0003474 + Sensory impairment Frequent (79-30%) - - - HP:0002932 - Aldehyde oxidase deficiency + + + HP:0005107 + Abnormal sacrum morphology Frequent (79-30%) - - - HP:0003534 - Reduced xanthine dehydrogenase activity + + + HP:0012514 + Lower limb pain Frequent (79-30%) - - - HP:0003643 - Sulfite oxidase deficiency + + + HP:0000020 + Urinary incontinence - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0010933 - Hyperxanthinemia + + + HP:0000716 + Depressivity - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0010934 - Xanthinuria + + + HP:0000789 + Infertility - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0011814 - Increased urinary hypoxanthine + + + HP:0002839 + Urinary bladder sphincter dysfunction - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0020074 - Crystalluria + + + HP:0002936 + Distal sensory impairment - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0000010 - Recurrent urinary tract infections + + + HP:0003306 + Spinal rigidity Occasional (29-5%) - - - HP:0000126 - Hydronephrosis + + + HP:0003401 + Paresthesia Occasional (29-5%) - - - HP:0000790 - Hematuria + + + HP:0003698 + Difficulty standing Occasional (29-5%) - - - HP:0001370 - Rheumatoid arthritis + + + HP:0004302 + Functional motor deficit Occasional (29-5%) - - - HP:0001919 - Acute kidney injury + + + HP:0009053 + Distal lower limb muscle weakness Occasional (29-5%) - - - HP:0003040 - Arthropathy + + + HP:0011868 + Sciatica Occasional (29-5%) - - - HP:0003198 - Myopathy + + + HP:0012700 + Abnormal large intestine physiology Occasional (29-5%) - - - HP:0004396 - Poor appetite + + + HP:0030014 + Female sexual dysfunction Occasional (29-5%) - - - HP:0012432 - Chronic fatigue + + + HP:0030016 + Dyspareunia Occasional (29-5%) - - - HP:0030157 - Flank pain + + + HP:0030943 + Vulvodynia Occasional (29-5%) - - - HP:0001997 - Gout + + + HP:0031952 + Neurogenic claudication + + + Occasional (29-5%) + + + + + + HP:0040307 + Male sexual dysfunction + + + Occasional (29-5%) + + + + + + HP:0000010 + Recurrent urinary tract infections Very rare (<4-1%) - - - 25370766[PMID]_29723117[PMID] - y - y - 2020-12-03 00:00:00.0 - - - - 2369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2369 - Limb body wall complex - - Malformation syndrome - - - Disorder - - - - - HP:0010866 - Abdominal wall defect + + + HP:0000802 + Impotence - - Very frequent (99-80%) + + Very rare (<4-1%) - - - HP:0011418 - Abnormal insertion of umbilical cord + + + HP:0002027 + Abdominal pain - - Very frequent (99-80%) + + Very rare (<4-1%) - - - HP:0040064 - Abnormality of limbs + + + HP:0002315 + Headache - - Very frequent (99-80%) + + Very rare (<4-1%) - - - HP:0000077 - Abnormality of the kidney + + + HP:0002355 + Difficulty walking - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0000765 - Abnormality of the thorax + + + HP:0002540 + Inability to walk - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0000776 - Congenital diaphragmatic hernia + + + HP:0002607 + Bowel incontinence - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0000925 - Abnormality of the vertebral column + + + HP:0003394 + Muscle spasm - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0001196 - Short umbilical cord + + + HP:0005765 + Sacral meningocele - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0001627 - Abnormal heart morphology + + + HP:0010835 + Dissociated sensory loss - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0001629 - Ventricular septal defect + + + HP:0012877 + Retrograde ejaculation - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0001631 - Atrial septal defect + + + HP:0025238 + Foot pain - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0001683 - Ectopia cordis + + + HP:0030834 + Shoulder pain - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0002011 - Morphological abnormality of the central nervous system + + + HP:0030838 + Hip pain - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0005257 - Thoracic hypoplasia + + + HP:0031520 + Groin pain - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0006711 - Aplasia/Hypoplasia involving bones of the thorax + + + HP:0031826 + Abnormal reflex - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0000175 - Cleft palate + + + HP:0100711 + Abnormality of the thoracic spine - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0000238 - Hydrocephalus + + + HP:0100749 + Chest pain - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0000316 - Hypertelorism + + + HP:0500005 + Anal pain - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0000431 - Wide nasal bridge + + + 28676364[PMID]_31041104[PMID]_31319080[PMID]_31079249[PMID]_31995396[PMID] + y + y + 2021-01-19 00:00:00.0 + + + + 47159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47159 + Proximal renal tubular acidosis + + Disease + + + Disorder + + + + + HP:0004910 + Bicarbonate-wasting renal tubular acidosis - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0000453 - Choanal atresia + + + HP:0004918 + Hyperchloremic metabolic acidosis - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0000612 - Iris coloboma + + + HP:0001508 + Failure to thrive - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0001132 - Lens subluxation + + + HP:0001510 + Growth delay - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0001195 - Single umbilical artery + + + HP:0002013 + Vomiting - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0001392 - Abnormality of the liver + + + HP:0002900 + Hypokalemia - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0001540 - Diastasis recti + + + HP:0003646 + Bicarbonaturia - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0001776 - Bilateral talipes equinovarus + + + HP:0000478 + Abnormality of the eye Occasional (29-5%) - - - HP:0001839 - Split foot + + + HP:0000501 + Glaucoma Occasional (29-5%) - - - HP:0002084 - Encephalocele + + + HP:0000518 + Cataract Occasional (29-5%) - - - HP:0002143 - Abnormality of the spinal cord + + + HP:0000585 + Band keratopathy Occasional (29-5%) - - - HP:0002242 - Abnormal intestine morphology + + + HP:0000787 + Nephrolithiasis Occasional (29-5%) - - - HP:0002323 - Anencephaly + + + HP:0000924 + Abnormality of the skeletal system Occasional (29-5%) - - - HP:0002414 - Spina bifida + + + HP:0001249 + Intellectual disability Occasional (29-5%) - - - HP:0002475 - Myelomeningocele + + + HP:0001530 + Mild postnatal growth retardation Occasional (29-5%) - - - HP:0002933 - Ventral hernia + + + HP:0001944 + Dehydration Occasional (29-5%) - - - HP:0003298 - Spina bifida occulta + + + HP:0001959 + Polydipsia Occasional (29-5%) - - - HP:0004275 - Duplication of hand bones + + + HP:0002014 + Diarrhea Occasional (29-5%) - - - HP:0005280 - Depressed nasal bridge + + + HP:0002024 + Malabsorption Occasional (29-5%) - - - HP:0006368 - Forearm reduction defects + + + HP:0002150 + Hypercalciuria Occasional (29-5%) - - - HP:0006496 - Aplasia/hypoplasia involving bones of the upper limbs + + + HP:0003076 + Glycosuria Occasional (29-5%) - - - HP:0007385 - Aplasia cutis congenita of scalp + + + HP:0003109 + Hyperphosphaturia Occasional (29-5%) - - - HP:0007957 - Corneal opacity + + + HP:0003126 + Low-molecular-weight proteinuria Occasional (29-5%) - - - HP:0008458 - Progressive congenital scoliosis + + + HP:0003149 + Hyperuricosuria Occasional (29-5%) - - - HP:0009775 - Amniotic constriction ring + + + HP:0003355 + Aminoaciduria Occasional (29-5%) - - - HP:0010055 - Broad hallux + + + HP:0004349 + Reduced bone mineral density Occasional (29-5%) - - - HP:0010242 - Aplasia of the proximal phalanges of the hand + + + HP:0006285 + Hypomineralization of enamel Occasional (29-5%) - - - HP:0010541 - Cutis gyrata of scalp + + + HP:0011106 + Hypovolemia Occasional (29-5%) - - - HP:0010554 - Cutaneous finger syndactyly + + + HP:0012573 + Global proximal tubulopathy Occasional (29-5%) - - - HP:0100656 - Thoracoabdominal wall defect + + + HP:0012605 + Hypernatriuria Occasional (29-5%) - - - HP:0410030 - Cleft lip + + + HP:0000121 + Nephrocalcinosis - - Occasional (29-5%) + + Very rare (<4-1%) + + + + + + HP:0000589 + Coloboma + + + Very rare (<4-1%) + + + + + + HP:0001682 + Subvalvular aortic stenosis + + + Very rare (<4-1%) + + + + + + HP:0004322 + Short stature + + + Very rare (<4-1%) - 24928524[PMID]_31556549[PMID]_28540190[PMID]_2962493[PMID]_26436108[PMID] + 31300090[PMID]_23235953[PMID]_28092281[PMID]_30139461[PMID] y y - 2020-12-09 00:00:00.0 + 2021-01-19 00:00:00.0 - - - 2524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524 - Pontocerebellar hypoplasia type 2 - - Malformation syndrome + + + 51608 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51608 + Generalized arterial calcification of infancy + + Disease Disorder - - - - HP:0001250 - Seizures - - - Very frequent (99-80%) - - - - - - HP:0001266 - Choreoathetosis + + + + HP:0003207 + Arterial calcification Very frequent (99-80%) - + + Diagnostic criterion + - - - HP:0001320 - Cerebellar vermis hypoplasia + + + HP:0004963 + Calcification of the aorta Very frequent (99-80%) - - - HP:0001321 - Cerebellar hypoplasia + + + HP:0006559 + Hepatic calcification Very frequent (99-80%) - - - HP:0002123 - Generalized myoclonic seizures + + + HP:0000121 + Nephrocalcinosis - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0002360 - Sleep disturbance + + + HP:0000365 + Hearing impairment - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0006850 - Hypoplasia of the ventral pons + + + HP:0000822 + Hypertension - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0011344 - Severe global developmental delay + + + HP:0000961 + Cyanosis - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0011968 - Feeding difficulties + + + HP:0001561 + Polyhydramnios - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0031162 - Impaired oropharyngeal swallow response + + + HP:0001717 + Coronary artery calcification - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0000253 - Progressive microcephaly + + + HP:0002098 + Respiratory distress Frequent (79-30%) - - - HP:0000340 - Sloping forehead + + + HP:0002749 + Osteomalacia Frequent (79-30%) - - - HP:0001270 - Motor delay + + + HP:0004912 + Hypophosphatemic rickets Frequent (79-30%) - - - HP:0002020 - Gastroesophageal reflux + + + HP:0004966 + Medial calcification of large arteries Frequent (79-30%) - - - HP:0002033 - Poor suck + + + HP:0010512 + Adrenal calcification Frequent (79-30%) - - - HP:0002104 - Apnea + + + HP:0010766 + Ectopic calcification Frequent (79-30%) - - - HP:0002268 - Paroxysmal dystonia + + + HP:0011968 + Feeding difficulties Frequent (79-30%) - - - HP:0002365 - Hypoplasia of the brainstem + + + HP:0012408 + Medullary nephrocalcinosis Frequent (79-30%) - - - HP:0002719 - Recurrent infections + + + HP:0012457 + Medial calcification of medium-sized arteries Frequent (79-30%) - - - HP:0007663 - Reduced visual acuity + + + HP:0025116 + Fetal distress Frequent (79-30%) - - - HP:0012469 - Infantile spasms + + + HP:0025169 + Left ventricular systolic dysfunction Frequent (79-30%) - - - HP:0200136 - Oral-pharyngeal dysphagia + + + HP:0025477 + Periarticular calcification Frequent (79-30%) - - - HP:0001257 - Spasticity + + + HP:0000381 + Stapes ankylosis Occasional (29-5%) - - - HP:0002079 - Hypoplasia of the corpus callosum + + + HP:0000405 + Conductive hearing impairment Occasional (29-5%) - - - HP:0002119 - Ventriculomegaly + + + HP:0000407 + Sensorineural hearing impairment Occasional (29-5%) - - - HP:0002536 - Abnormal cortical gyration + + + HP:0000410 + Mixed hearing impairment Occasional (29-5%) - - - HP:0003487 - Babinski sign + + + HP:0000630 + Abnormal retinal artery morphology Occasional (29-5%) - - - HP:0003558 - Viral infection-induced rhabdomyolysis + + + HP:0000737 + Irritability Occasional (29-5%) - - - HP:0006895 - Lower limb hypertonia + + + HP:0000951 + Abnormality of the skin Occasional (29-5%) - - - HP:0006989 - Dysplastic corpus callosum + + + HP:0000969 + Edema Occasional (29-5%) - - - HP:0007598 - Bilateral single transverse palmar creases + + + HP:0001384 + Abnormality of the hip joint Occasional (29-5%) - - - HP:0009062 - Infantile axial hypotonia + + + HP:0001531 + Failure to thrive in infancy Occasional (29-5%) - - - HP:0011171 - Simple febrile seizures + + + HP:0001541 + Ascites Occasional (29-5%) - - - HP:0011471 - Gastrostomy tube feeding in infancy + + + HP:0001640 + Cardiomegaly Occasional (29-5%) - - - HP:0012765 - Widened cerebellar subarachnoid space + + + HP:0001698 + Pericardial effusion Occasional (29-5%) - - - HP:0025190 - Generalized tonic-clonic seizures without focal onset + + + HP:0001714 + Ventricular hypertrophy Occasional (29-5%) - - - HP:0100704 - Cerebral visual impairment + + + HP:0001789 + Hydrops fetalis Occasional (29-5%) - - - HP:0200049 - Upper limb hypertonia + + + HP:0001945 + Fever Occasional (29-5%) - - - HP:0002350 - Cerebellar cyst - - - Very rare (<4-1%) - - - - - - HP:0001999 - Abnormal facial shape + + + HP:0002013 + Vomiting - - Excluded (0%) + + Occasional (29-5%) - - - 23562994[PMID]_20301773[PMID] - y - y - 2020-12-10 00:00:00.0 - - - - 90289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90289 - Localized scleroderma - - Disease - - - Disorder - - - - - HP:0001072 - Thickened skin + + + HP:0002815 + Abnormality of the knee - - Very frequent (99-80%) + + Occasional (29-5%) - + HP:0002829 Arthralgia - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0011355 - Localized skin lesion + + + HP:0002949 + Fused cervical vertebrae - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0030053 - Stiff skin + + + HP:0003836 + Stippled calcification of the shoulder - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0031359 - Cutaneous sclerotic plaque + + + HP:0003941 + Stippled calcification of the elbow - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0000164 - Abnormality of the dentition + + + HP:0005213 + Pancreatic calcification Occasional (29-5%) - - - HP:0000177 - Abnormality of upper lip - + + + HP:0009164 + Abnormal calcification of the carpal bones + Occasional (29-5%) - - - HP:0000324 - Facial asymmetry + + + HP:0010639 + Elevated alkaline phosphatase of bone origin Occasional (29-5%) - - - HP:0000504 - Abnormality of vision + + + HP:0012409 + Cortical nephrocalcinosis Occasional (29-5%) - - - HP:0000554 - Uveitis + + + HP:0032553 + Weak pulse Occasional (29-5%) - - - HP:0000689 - Dental malocclusion + + + HP:0200067 + Recurrent spontaneous abortion Occasional (29-5%) - - - HP:0000953 - Hyperpigmentation of the skin + + + HP:0000573 + Retinal hemorrhage - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001053 - Hypopigmented skin patches + + + HP:0001102 + Angioid streaks of the fundus - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001369 - Arthritis + + + HP:0001250 + Seizures - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001371 - Flexion contracture + + + HP:0001297 + Stroke - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0002020 - Gastroesophageal reflux + + + HP:0002092 + Pulmonary arterial hypertension + + + Very rare (<4-1%) + + + + + + HP:0002326 + Transient ischemic attack + + + Very rare (<4-1%) + + + + + + HP:0002514 + Cerebral calcification + + + Very rare (<4-1%) + + + + + + HP:0002647 + Aortic dissection + + + Very rare (<4-1%) + + + + + + HP:0003109 + Hyperphosphaturia + + + Very rare (<4-1%) + + + + + + HP:0005103 + Calcification of the auricular cartilage + + + Very rare (<4-1%) + + + + + + HP:0006690 + Myocardial calcification + + + Very rare (<4-1%) + + + + + + HP:0011344 + Severe global developmental delay + + + Very rare (<4-1%) + + + + + + HP:0011506 + Choroidal neovascularization + + + Very rare (<4-1%) + + + + + + HP:0040197 + Encephalomalacia + + + Very rare (<4-1%) + + + + + + HP:0100758 + Gangrene + + + Very rare (<4-1%) + + + + + + 25392903[PMID] + y + y + 2021-01-20 00:00:00.0 + + + + 53035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035 + Caroli disease + + Malformation syndrome + + + Disorder + + + + + HP:0000952 + Jaundice + + + Frequent (79-30%) + + + + + + HP:0001406 + Intrahepatic cholestasis + + + Frequent (79-30%) + + + + + + HP:0002027 + Abdominal pain + + + Frequent (79-30%) + + + + + + HP:0003155 + Elevated alkaline phosphatase + + + Frequent (79-30%) + + + + + + HP:0030151 + Cholangitis + + + Frequent (79-30%) + + + + + + HP:0030948 + Elevated gamma-glutamyltransferase activity + + + Frequent (79-30%) + + + + + + HP:0000113 + Polycystic kidney dysplasia Occasional (29-5%) - - - HP:0002076 - Migraine + + + HP:0000989 + Pruritus Occasional (29-5%) - - - HP:0002232 - Patchy alopecia + + + HP:0001081 + Cholelithiasis Occasional (29-5%) - - - HP:0002315 - Headache + + + HP:0001541 + Ascites Occasional (29-5%) - - - HP:0002960 - Autoimmunity + + + HP:0001744 + Splenomegaly Occasional (29-5%) - - - HP:0003198 - Myopathy + + + HP:0001824 + Weight loss Occasional (29-5%) - - - HP:0004426 - Abnormality of the cheek + + + HP:0001945 + Fever Occasional (29-5%) - - - HP:0006336 - Short dental roots + + + HP:0002013 + Vomiting Occasional (29-5%) - - - HP:0009019 - Progressive loss of facial adipose tissue + + + HP:0002018 + Nausea Occasional (29-5%) - - - HP:0010783 - Erythema + + + HP:0002039 + Anorexia Occasional (29-5%) - - - HP:0011331 - Hemifacial atrophy + + + HP:0002040 + Esophageal varix Occasional (29-5%) - - - HP:0011821 - Abnormality of facial skeleton + + + HP:0002240 + Hepatomegaly Occasional (29-5%) - - - HP:0025474 - Erythematous plaque + + + HP:0002904 + Hyperbilirubinemia Occasional (29-5%) - - - HP:0100537 - Fasciitis + + + HP:0025143 + Chills Occasional (29-5%) - - - HP:0100560 - Upper limb asymmetry + + + HP:0031964 + Elevated serum alanine aminotransferase Occasional (29-5%) - - - HP:0100876 - Infra-orbital crease + + + HP:0032106 + Conjunctival icterus Occasional (29-5%) - - - HP:0100899 - Sclerosis of finger phalanx + + + HP:0032545 + Abdominal rigidity Occasional (29-5%) - - - HP:0000077 - Abnormality of the kidney + + + HP:0001395 + Hepatic fibrosis Very rare (<4-1%) - - - HP:0000366 - Abnormality of the nose + + + HP:0001409 + Portal hypertension Very rare (<4-1%) - - - HP:0000490 - Deeply set eye + + + HP:0002613 + Biliary cirrhosis Very rare (<4-1%) - - - HP:0000520 - Proptosis + + + HP:0030153 + Cholangiocarcinoma Very rare (<4-1%) - - - HP:0000707 - Abnormality of the nervous system + + + HP:0100523 + Liver abscess Very rare (<4-1%) - - - HP:0000872 - Hashimoto thyroiditis + + + HP:0001405 + Periportal fibrosis - - Very rare (<4-1%) + + Excluded (0%) - - - HP:0001045 - Vitiligo + + + HP:0045056 + Abnormal levels of alpha-fetoprotein - - Very rare (<4-1%) + + Excluded (0%) - - - HP:0001250 - Seizures + + + 22908976[PMID]_30020679[PMID] + y + y + 2021-01-20 00:00:00.0 + + + + 60026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60026 + Pulmonary nodular lymphoid hyperplasia + + Disease + + + Disorder + + + + + HP:0002729 + Follicular hyperplasia - - Very rare (<4-1%) + + Frequent (79-30%) - - - HP:0001297 - Stroke + + + HP:0012735 + Cough - - Very rare (<4-1%) + + Frequent (79-30%) - - - HP:0001626 - Abnormality of the cardiovascular system + + + HP:0025392 + Nodular pattern on pulmonary HRCT - - Very rare (<4-1%) + + Frequent (79-30%) - - - HP:0002086 - Abnormality of the respiratory system + + + HP:0030150 + Plasmacytosis - - Very rare (<4-1%) + + Frequent (79-30%) - - - HP:0002384 - Focal impaired awareness seizure + + + HP:0100721 + Mediastinal lymphadenopathy - - Very rare (<4-1%) + + Frequent (79-30%) - - - HP:0002633 - Vasculitis + + + HP:0002094 + Dyspnea - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0003202 - Skeletal muscle atrophy + + + HP:0025179 + Ground-glass opacification on pulmonary HRCT - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0003330 - Abnormal bone structure + + + HP:0100749 + Chest pain - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0008066 - Abnormal blistering of the skin + + + HP:0002721 + Immunodeficiency Very rare (<4-1%) - - - HP:0011138 - Abnormality of skin adnexa morphology + + + HP:0030057 + Autoimmune antibody positivity Very rare (<4-1%) - - - HP:0011675 - Arrhythmia + + + 29902913[PMID]_30720334[PMID]_28609772[PMID] + y + y + 2021-01-20 00:00:00.0 + + + + 18 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=18 + Distal renal tubular acidosis + + Disease + + + Disorder + + + + + HP:0000121 + Nephrocalcinosis - - Very rare (<4-1%) + + Very frequent (99-80%) - - - HP:0030878 - Abnormality on pulmonary function testing + + + HP:0001996 + Chronic metabolic acidosis - - Very rare (<4-1%) + + Very frequent (99-80%) - - - HP:0030880 - Raynaud phenomenon + + + HP:0002900 + Hypokalemia - - Very rare (<4-1%) + + Very frequent (99-80%) - - - HP:0100633 - Esophagitis + + + HP:0004349 + Reduced bone mineral density - - Very rare (<4-1%) + + Very frequent (99-80%) - - - HP:0200041 - Skin erosion + + + HP:0004918 + Hyperchloremic metabolic acidosis - - Very rare (<4-1%) + + Very frequent (99-80%) - - - 25672301[PMID]_29687475[PMID]_29875934[PMID]_28271552 - y - y - 2020-12-08 00:00:00.0 - - - - 1445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1445 - Ring chromosome 21 syndrome - - Malformation syndrome - - - Disorder - - - - - HP:0001999 - Abnormal facial shape + + + HP:0012405 + Hypocitraturia Very frequent (99-80%) - - - HP:0000141 - Amenorrhea + + + HP:0032066 + Decreased serum bicarbonate concentration + + + Very frequent (99-80%) + + + + + + HP:0000128 + Renal potassium wasting Frequent (79-30%) - - - HP:0000252 - Microcephaly + + + HP:0000787 + Nephrolithiasis Frequent (79-30%) - - - HP:0000789 - Infertility + + + HP:0001324 + Muscle weakness Frequent (79-30%) - - - HP:0001249 - Intellectual disability + + + HP:0001508 + Failure to thrive Frequent (79-30%) - - - HP:0001250 - Seizures + + + HP:0001510 + Growth delay Frequent (79-30%) - - - HP:0002353 - EEG abnormality + + + HP:0002150 + Hypercalciuria Frequent (79-30%) - - - HP:0025356 - Psychomotor retardation + + + HP:0003109 + Hyperphosphaturia Frequent (79-30%) - - - HP:0000027 - Azoospermia + + + HP:0004322 + Short stature - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0000750 - Delayed speech and language development + + + HP:0012608 + Hypermagnesiuria - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0000765 - Abnormality of the thorax + + + HP:0000107 + Renal cyst Occasional (29-5%) - - - HP:0000873 - Diabetes insipidus + + + HP:0000114 + Proximal tubulopathy Occasional (29-5%) - - - HP:0000992 - Cutaneous photosensitivity + + + HP:0000407 + Sensorineural hearing impairment Occasional (29-5%) - - - HP:0001159 - Syndactyly + + + HP:0001944 + Dehydration Occasional (29-5%) - - - HP:0001257 - Spasticity + + + HP:0001959 + Polydipsia Occasional (29-5%) - - - HP:0001288 - Gait disturbance + + + HP:0002013 + Vomiting Occasional (29-5%) - - - HP:0001360 - Holoprosencephaly + + + HP:0002014 + Diarrhea Occasional (29-5%) - - - HP:0001627 - Abnormal heart morphology + + + HP:0002019 + Constipation Occasional (29-5%) - - - HP:0002123 - Generalized myoclonic seizures + + + HP:0002653 + Bone pain Occasional (29-5%) - - - HP:0002650 - Scoliosis + + + HP:0002659 + Increased susceptibility to fractures Occasional (29-5%) - - - HP:0004283 - Narrow palm + + + HP:0002747 + Respiratory insufficiency due to muscle weakness Occasional (29-5%) - - - HP:0004313 - Decreased antibody level in blood + + + HP:0002748 + Rickets Occasional (29-5%) - - - HP:0004322 - Short stature + + + HP:0002749 + Osteomalacia Occasional (29-5%) - - - HP:0007565 - Multiple cafe-au-lait spots + + + HP:0003126 + Low-molecular-weight proteinuria Occasional (29-5%) - - - HP:0008467 - Thoracic hemivertebrae + + + HP:0003355 + Aminoaciduria Occasional (29-5%) - - - HP:0011171 - Simple febrile seizures + + + HP:0004396 + Poor appetite Occasional (29-5%) - - - HP:0025190 - Generalized tonic-clonic seizures without focal onset + + + HP:0011387 + Enlarged vestibular aqueduct Occasional (29-5%) - - - HP:0030039 - Fused thoracic vertebrae + + + HP:0011964 + Intermittent painful muscle spasms Occasional (29-5%) - - - HP:0030084 - Clinodactyly + + + HP:0012213 + Decreased glomerular filtration rate Occasional (29-5%) - - - HP:0200055 - Small hand + + + HP:0001878 + Hemolytic anemia - - Occasional (29-5%) + + Very rare (<4-1%) + + + + + + HP:0003470 + Paralysis + + + Very rare (<4-1%) - 21595005[PMID]_29492108[PMID] + 30139458[PMID]_31600044[PMID] y y - 2020-12-08 00:00:00.0 + 2020-12-16 00:00:00.0 - - - 2843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2843 - Pentosuria + + + 2088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 + Fanconi-Bickel syndrome Disease Disorder - - - - HP:0011021 - Abnormality of circulating enzyme level + + + + HP:0001508 + Failure to thrive Very frequent (99-80%) - - - HP:0031979 - Abnormal urine carbohydrate level + + + HP:0001947 + Renal tubular acidosis Very frequent (99-80%) - - - HP:0011013 - Abnormal circulating carbohydrate concentration + + + HP:0002148 + Hypophosphatemia - - Frequent (79-30%) + + Very frequent (99-80%) - - - 18850300[PMID]_22042873[PMID] - y - y - 2020-12-11 00:00:00.0 - - - - 1578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1578 - Pterin-4 alpha-carbinolamine dehydratase deficiency - - Clinical subtype - - - Subtype of disorder - - - - - HP:0004923 - Hyperphenylalaninemia + + + HP:0003109 + Hyperphosphaturia Very frequent (99-80%) - - - HP:0040210 - Abnormal circulating biopterin concentration + + + HP:0004919 + Galactose intolerance Very frequent (99-80%) - - - HP:0010553 - Oculogyric crisis + + + HP:0006568 + Increased hepatic glycogen content + + + Very frequent (99-80%) + + + + + + HP:0040270 + Impaired glucose tolerance + + + Very frequent (99-80%) + + + + + + HP:0500030 + Abnormal hepatic glycogen storage + + + Very frequent (99-80%) + + + + + + HP:0001510 + Growth delay Frequent (79-30%) - - - HP:0040206 - Abnormal circulating neopterin concentration + + + HP:0001942 + Metabolic acidosis Frequent (79-30%) - - - HP:0000737 - Irritability + + + HP:0002150 + Hypercalciuria + + + Frequent (79-30%) + + + + + + HP:0002240 + Hepatomegaly + + + Frequent (79-30%) + + + + + + HP:0002748 + Rickets + + + Frequent (79-30%) + + + + + + HP:0003076 + Glycosuria + + + Frequent (79-30%) + + + + + + HP:0003162 + Fasting hypoglycemia + + + Frequent (79-30%) + + + + + + HP:0003270 + Abdominal distention + + + Frequent (79-30%) + + + + + + HP:0011998 + Postprandial hyperglycemia + + + Frequent (79-30%) + + + + + + HP:0000112 + Nephropathy Occasional (29-5%) - - - HP:0001276 - Hypertonia + + + HP:0000121 + Nephrocalcinosis Occasional (29-5%) - - - HP:0001337 - Tremor + + + HP:0000819 + Diabetes mellitus Occasional (29-5%) - - - HP:0002917 - Hypomagnesemia + + + HP:0000938 + Osteopenia Occasional (29-5%) - - - HP:0008936 - Muscular hypotonia of the trunk + + + HP:0001399 + Hepatic failure Occasional (29-5%) - - - HP:0012758 - Neurodevelopmental delay + + + HP:0002155 + Hypertriglyceridemia Occasional (29-5%) - - - HP:0001300 - Parkinsonism + + + HP:0002909 + Generalized aminoaciduria - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0004904 - Maturity-onset diabetes of the young + + + HP:0003155 + Elevated alkaline phosphatase + + + Occasional (29-5%) + + + + + + HP:0006487 + Bowing of the long bones + + + Occasional (29-5%) + + + + + + HP:0020110 + Bone fracture + + + Occasional (29-5%) + + + + + + HP:0031956 + Elevated serum aspartate aminotransferase + + + Occasional (29-5%) + + + + + + HP:0031964 + Elevated serum alanine aminotransferase + + + Occasional (29-5%) + + + + + + HP:0000295 + Doll-like facies Very rare (<4-1%) - - - HP:0100021 - Cerebral palsy + + + HP:0001402 + Hepatocellular carcinoma Very rare (<4-1%) @@ -970367,224 +969598,294 @@ - 19234759[PMID]_32456656[PMID]_21867484[PMID] + 29624224[PMID]_30950137[PMID] y y - 2020-12-11 00:00:00.0 + 2020-12-15 00:00:00.0 - - - 1724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1724 - Mosaic trisomy 20 - - Malformation syndrome + + + 135 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=135 + CACH syndrome + + Disease Disorder - - - - HP:0008947 - Infantile muscular hypotonia + + + + HP:0006978 + Dysmyelinating leukodystrophy Very frequent (99-80%) - - - HP:0000278 - Retrognathia + + + HP:0410263 + Brain imaging abnormality + + + Very frequent (99-80%) + + + + + + HP:0000648 + Optic atrophy Frequent (79-30%) - - - HP:0002143 - Abnormality of the spinal cord + + + HP:0000737 + Irritability Frequent (79-30%) - - - HP:0007483 - Depigmentation/hyperpigmentation of skin + + + HP:0001250 + Seizures Frequent (79-30%) - - - HP:0007535 - Hypopigmented streaks + + + HP:0001257 + Spasticity Frequent (79-30%) - - - HP:0011342 - Mild global developmental delay + + + HP:0001272 + Cerebellar atrophy Frequent (79-30%) - - - HP:0012450 - Chronic constipation + + + HP:0001347 + Hyperreflexia Frequent (79-30%) - - - HP:0200021 - Down-sloping shoulders + + + HP:0002059 + Cerebral atrophy Frequent (79-30%) - - - HP:0000028 - Cryptorchidism + + + HP:0002070 + Limb ataxia + + + Frequent (79-30%) + + + + + + HP:0002078 + Truncal ataxia + + + Frequent (79-30%) + + + + + + HP:0002344 + Progressive neurologic deterioration + + + Frequent (79-30%) + + + + + + HP:0006855 + Cerebellar vermis atrophy + + + Frequent (79-30%) + + + + + + HP:0007366 + Atrophy/Degeneration affecting the brainstem + + + Frequent (79-30%) + + + + + + HP:0008209 + Premature ovarian insufficiency + + + Frequent (79-30%) + + + + + + HP:0000089 + Renal hypoplasia Occasional (29-5%) - - - HP:0000077 - Abnormality of the kidney + + + HP:0000133 + Gonadal dysgenesis Occasional (29-5%) - - - HP:0000085 - Horseshoe kidney + + + HP:0000252 + Microcephaly Occasional (29-5%) - - - HP:0000175 - Cleft palate + + + HP:0000518 + Cataract Occasional (29-5%) - - - HP:0000347 - Micrognathia + + + HP:0000618 + Blindness Occasional (29-5%) - - - HP:0000365 - Hearing impairment + + + HP:0000708 + Behavioral abnormality Occasional (29-5%) - - - HP:0000472 - Long neck + + + HP:0000741 + Apathy Occasional (29-5%) - - - HP:0000486 - Strabismus + + + HP:0000786 + Primary amenorrhea Occasional (29-5%) - - - HP:0000582 - Upslanted palpebral fissure + + + HP:0000869 + Secondary amenorrhea Occasional (29-5%) - - - HP:0000750 - Delayed speech and language development + + + HP:0001260 + Dysarthria Occasional (29-5%) - - - HP:0000774 - Narrow chest + + + HP:0001264 + Spastic diplegia Occasional (29-5%) - - - HP:0001260 - Dysarthria + + + HP:0001269 + Hemiparesis Occasional (29-5%) - + HP:0001270 Motor delay @@ -970594,17 +969895,57 @@ - - - HP:0001328 - Specific learning disability + + + HP:0001298 + Encephalopathy Occasional (29-5%) - + + + HP:0001310 + Dysmetria + + + Occasional (29-5%) + + + + + + HP:0001371 + Flexion contracture + + + Occasional (29-5%) + + + + + + HP:0001433 + Hepatosplenomegaly + + + Occasional (29-5%) + + + + + + HP:0001510 + Growth delay + + + Occasional (29-5%) + + + + HP:0001511 Intrauterine growth retardation @@ -970614,1806 +969955,2433 @@ - - - HP:0001629 - Ventricular septal defect + + + HP:0001558 + Decreased fetal movement Occasional (29-5%) - - - HP:0001633 - Abnormal mitral valve morphology + + + HP:0001562 + Oligohydramnios Occasional (29-5%) - - - HP:0002650 - Scoliosis + + + HP:0001733 + Pancreatitis Occasional (29-5%) - - - HP:0002808 - Kyphosis + + + HP:0002013 + Vomiting Occasional (29-5%) - - - HP:0002948 - Vertebral fusion + + + HP:0002015 + Dysphagia Occasional (29-5%) - - - HP:0002949 - Fused cervical vertebrae + + + HP:0002076 + Migraine Occasional (29-5%) - - - HP:0003416 - Spinal canal stenosis + + + HP:0002315 + Headache Occasional (29-5%) - - - HP:0003422 - Vertebral segmentation defect + + + HP:0002804 + Arthrogryposis multiplex congenita Occasional (29-5%) - - - HP:0004484 - Craniofacial asymmetry + + + HP:0006956 + Dilation of lateral ventricles Occasional (29-5%) - - - HP:0006394 - Limited pronation/supination of forearm + + + HP:0007361 + Abnormality of the pons Occasional (29-5%) - - - HP:0006610 - Wide intermamillary distance + + + HP:0008288 + Nonketotic hyperglycinemia Occasional (29-5%) - - - HP:0011398 - Central hypotonia + + + HP:0008947 + Infantile muscular hypotonia Occasional (29-5%) - - - HP:0030084 - Clinodactyly + + + HP:0011342 + Mild global developmental delay Occasional (29-5%) - - - HP:0030732 - Dysplastic tricuspid valve + + + HP:0011968 + Feeding difficulties Occasional (29-5%) - - - HP:0410030 - Cleft lip + + + HP:0012690 + T2 hypointense thalamus Occasional (29-5%) - - - HP:0001249 - Intellectual disability + + + HP:0012704 + Widened subarachnoid space - - Excluded (0%) + + Occasional (29-5%) + + + + + + HP:0032398 + Dysgyria + + + Occasional (29-5%) + + + + + + HP:0100543 + Cognitive impairment + + + Occasional (29-5%) + + + + + + HP:0100653 + Optic neuritis + + + Occasional (29-5%) + + + + + + HP:0004481 + Progressive macrocephaly + + + Very rare (<4-1%) - 18203170[PMID] + 29740943[PMID]_20301435[PMID] y y - 2020-12-10 00:00:00.0 + 2020-12-18 00:00:00.0 - - - 3243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3243 - Sweet syndrome - - Disease + + + 1018 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 + X-linked Alport syndrome-diffuse leiomyomatosis + + Clinical subtype - - Disorder + + Subtype of disorder - - - HP:0012531 - Pain + + + HP:0002015 + Dysphagia Very frequent (99-80%) - - - HP:0025474 - Erythematous plaque + + + HP:0002031 + Abnormal esophagus morphology Very frequent (99-80%) - - - HP:0030350 - Erythematous papule + + + HP:0012718 + Morphological abnormality of the gastrointestinal tract Very frequent (99-80%) - - - HP:0030782 - Abnormal serum interleukin level + + + HP:0100751 + Esophageal neoplasm Very frequent (99-80%) - - - HP:0031236 - Predominantly dermal neutrophilic infiltrate + + + HP:0000093 + Proteinuria - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0200036 - Skin nodule + + + HP:0000112 + Nephropathy - - Very frequent (99-80%) + + Frequent (79-30%) - - - HP:0000271 - Abnormality of the face + + + HP:0000407 + Sensorineural hearing impairment Frequent (79-30%) - - - HP:0000464 - Abnormality of the neck + + + HP:0000478 + Abnormality of the eye Frequent (79-30%) - - - HP:0001061 - Acne + + + HP:0000518 + Cataract Frequent (79-30%) - - - HP:0001155 - Abnormality of the hand + + + HP:0000790 + Hematuria Frequent (79-30%) - - - HP:0001974 - Leukocytosis + + + HP:0001508 + Failure to thrive Frequent (79-30%) - - - HP:0002829 - Arthralgia + + + HP:0002013 + Vomiting Frequent (79-30%) - - - HP:0003326 - Myalgia + + + HP:0002020 + Gastroesophageal reflux Frequent (79-30%) - - - HP:0003565 - Elevated erythrocyte sedimentation rate + + + HP:0002571 + Achalasia Frequent (79-30%) - - - HP:0011118 - Abnormality of tumor necrosis factor secretion + + + HP:0003262 + Smooth muscle antibody positivity Frequent (79-30%) - - - HP:0011227 - Elevated C-reactive protein level + + + HP:0006756 + Diffuse leiomyomatosis Frequent (79-30%) - - - HP:0011897 - Neutrophilia + + + HP:0010460 + Abnormality of the female genitalia Frequent (79-30%) - - - HP:0011944 - Small vessel vasculitis + + + HP:0012622 + Chronic kidney disease Frequent (79-30%) - - - HP:0025616 - Sterile abscess + + + HP:0100749 + Chest pain Frequent (79-30%) - - - HP:0030783 - Increased serum interleukin-6 + + + HP:0100771 + Hypoperistalsis Frequent (79-30%) - - - HP:0032324 - Non-periodic recurrent fever + + + HP:0410281 + Dyspepsia Frequent (79-30%) - - - HP:0100614 - Myositis + + + HP:0000491 + Keratitis - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0001903 - Anemia + + + HP:0000545 + Myopia Occasional (29-5%) - - - HP:0002037 - Inflammation of the large intestine + + + HP:0001824 + Weight loss Occasional (29-5%) - - - HP:0002664 - Neoplasm + + + HP:0002094 + Dyspnea Occasional (29-5%) - - - HP:0002719 - Recurrent infections + + + HP:0002205 + Recurrent respiratory infections Occasional (29-5%) - - - HP:0004377 - Hematological neoplasm + + + HP:0003774 + Stage 5 chronic kidney disease Occasional (29-5%) - - - HP:0004808 - Acute myeloid leukemia + + + HP:0006524 + Tracheobronchial leiomyomatosis Occasional (29-5%) - - - HP:0008066 - Abnormal blistering of the skin + + + HP:0010450 + Esophageal stenosis Occasional (29-5%) - - - HP:0012490 - Panniculitis + + + HP:0010614 + Fibroma Occasional (29-5%) - - - HP:0020169 - Abnormal drug response + + + HP:0010784 + Uterine neoplasm Occasional (29-5%) - - - HP:0025452 - Pyoderma gangrenosum + + + HP:0011501 + Anterior lenticonus Occasional (29-5%) - - - HP:0040154 - Acne inversa + + + HP:0011951 + Aspiration pneumonia Occasional (29-5%) - - - HP:0040313 - Oligoarthritis + + + HP:0012252 + Abnormal respiratory system morphology Occasional (29-5%) - - - HP:0200037 - Skin vesicle + + + HP:0012735 + Cough Occasional (29-5%) - - - HP:0200039 - Pustule + + + HP:0030416 + Vulvar neoplasm Occasional (29-5%) - - - HP:0001644 - Dilated cardiomyopathy + + + HP:0032141 + Precordial pain - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0003002 - Breast carcinoma + + + HP:0040288 + Nasogastric tube feeding - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0005550 - Chronic lymphatic leukemia + + + HP:0100650 + Vaginal neoplasm - - Very rare (<4-1%) + + Occasional (29-5%) - 27030597[PMID]_ 28835462[PMID]_ 28981179[PMID]_ 30734344[PMID] + 3153032[PMID]_30322718[PMID]_23765124[PMID]_28275241[PMID] y y - 2020-12-10 00:00:00.0 + 2020-12-17 00:00:00.0 - - - 89936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936 - X-linked hypophosphatemia - - Disease + + + 2260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2260 + Oligomeganephronia + + Morphological anomaly Disorder - - - - HP:0000117 - Renal phosphate wasting + + + + HP:0000083 + Renal insufficiency Very frequent (99-80%) - - - HP:0002148 - Hypophosphatemia + + + HP:0000093 + Proteinuria Very frequent (99-80%) - - - HP:0002748 - Rickets + + + HP:0003259 + Elevated serum creatinine Very frequent (99-80%) - - - HP:0003127 - Hypocalciuria + + + HP:0005563 + Decreased numbers of nephrons Very frequent (99-80%) - - - HP:0003155 - Elevated alkaline phosphatase + + + HP:0012213 + Decreased glomerular filtration rate Very frequent (99-80%) - - - HP:0006490 - Abnormality of lower-limb metaphyses + + + HP:0012575 + Abnormal nephron morphology Very frequent (99-80%) - - - HP:0000694 - Shell teeth + + + HP:0012584 + Bilateral renal hypoplasia - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0000897 - Rachitic rosary + + + HP:0030162 + Glomerulomegaly - - Frequent (79-30%) + + Very frequent (99-80%) - - - HP:0001510 - Growth delay + + + HP:0000092 + Renal tubular atrophy Frequent (79-30%) - - - HP:0002653 - Bone pain + + + HP:0001518 + Small for gestational age Frequent (79-30%) - - - HP:0002829 - Arthralgia + + + HP:0001622 + Premature birth Frequent (79-30%) - - - HP:0002857 - Genu valgum + + + HP:0003774 + Stage 5 chronic kidney disease Frequent (79-30%) - - - HP:0002970 - Genu varum + + + HP:0011035 + Abnormal renal cortex morphology Frequent (79-30%) - - - HP:0002979 - Bowing of the legs + + + HP:0025361 + Abnormality of medullary pyramid morphology Frequent (79-30%) - - - HP:0003498 - Disproportionate short stature + + + HP:0001944 + Dehydration - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0003856 - Upper limb metaphyseal widening + + + HP:0001959 + Polydipsia - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0004349 - Reduced bone mineral density + + + HP:0000122 + Unilateral renal agenesis - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0005930 - Abnormality of epiphysis morphology + + + HP:0000271 + Abnormality of the face - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0006487 - Bowing of the long bones + + + HP:0000347 + Micrognathia - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0008117 - Shortening of the talar neck + + + HP:0000365 + Hearing impairment - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0008144 - Flattening of the talar dome + + + HP:0000588 + Optic nerve coloboma - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0010299 - Abnormality of dentin + + + HP:0000776 + Congenital diaphragmatic hernia - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0025335 - Delayed ability to stand + + + HP:0000822 + Hypertension - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0030757 - Tooth abscess + + + HP:0001250 + Seizures - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0031936 - Delayed ability to walk + + + HP:0001684 + Secundum atrial septal defect - - Frequent (79-30%) + + Very rare (<4-1%) - - - HP:0000920 - Enlargement of the costochondral junction + + + HP:0002089 + Pulmonary hypoplasia - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0000923 - Beaded ribs + + + HP:0006518 + Pulmonary venous occlusion - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001363 - Craniosynostosis + + + HP:0009796 + Branchial cyst - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001369 - Arthritis + + + HP:0012758 + Neurodevelopmental delay - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001376 - Limitation of joint mobility + + + HP:0040064 + Abnormality of limbs - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0002007 - Frontal bossing + + + 24765519[PMID]_32520748[PMID]_25731007[PMID] + y + y + 2021-01-05 00:00:00.0 + + + + 157215 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215 + Hereditary hypophosphatemic rickets with hypercalciuria + + Disease + + + Disorder + + + + + HP:0002148 + Hypophosphatemia - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0002869 - Flared iliac wings + + + HP:0002150 + Hypercalciuria - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0006432 - Trapezoidal distal femoral condyles + + + HP:0003109 + Hyperphosphaturia - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0008442 - Vertebral hyperostosis + + + HP:0004912 + Hypophosphatemic rickets - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0012449 - Sacroiliac joint synovitis + + + HP:0010639 + Elevated alkaline phosphatase of bone origin - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0025369 - Thick growth plates + + + HP:0031415 + High serum calcitriol - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0100686 - Enthesitis + + + HP:0031425 + Increased circulating beta-C-terminal telopeptide level + + + Very frequent (99-80%) + + + + + + HP:0031428 + Increased circulating osteocalcin level + + + Very frequent (99-80%) + + + + + + HP:0031817 + Decreased circulating parathyroid hormone level + + + Very frequent (99-80%) + + + + + + HP:0000787 + Nephrolithiasis + + + Frequent (79-30%) + + + + + + HP:0000924 + Abnormality of the skeletal system + + + Frequent (79-30%) + + + + + + HP:0001510 + Growth delay + + + Frequent (79-30%) + + + + + + HP:0002653 + Bone pain + + + Frequent (79-30%) + + + + + + HP:0002749 + Osteomalacia + + + Frequent (79-30%) + + + + + + HP:0004349 + Reduced bone mineral density + + + Frequent (79-30%) + + + + + + HP:0012408 + Medullary nephrocalcinosis + + + Frequent (79-30%) + + + + + + HP:0000897 + Rachitic rosary Occasional (29-5%) - - - HP:0000407 - Sensorineural hearing impairment + + + HP:0002515 + Waddling gait - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0002308 - Arnold-Chiari malformation + + + HP:0002756 + Pathologic fracture - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0005789 - Generalized osteosclerosis + + + HP:0002979 + Bowing of the legs - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0100658 - Cellulitis + + + HP:0004322 + Short stature - - Very rare (<4-1%) + + Occasional (29-5%) - 30928313[PMID]_22319799[PMID] + 23108197[PMID]_30109410[PMID]_30454743[PMID] y y - 2020-12-15 00:00:00.0 + 2021-01-04 00:00:00.0 - - - 3269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3269 - Congenital radioulnar synostosis - - Morphological anomaly + + + 1183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1183 + Opsoclonus-myoclonus syndrome + + Disease Disorder - - - - HP:0002974 - Radioulnar synostosis + + + + HP:0000570 + Abnormal saccadic eye movements Very frequent (99-80%) - - - HP:0002996 - Limited elbow movement + + + HP:0001251 + Ataxia Very frequent (99-80%) - - - HP:0006394 - Limited pronation/supination of forearm + + + HP:0001336 + Myoclonus Very frequent (99-80%) - - - HP:0040071 - Abnormal morphology of ulna + + + HP:0002360 + Sleep disturbance Very frequent (99-80%) - - - HP:0045009 - Abnormal morphology of the radius + + + HP:0010543 + Opsoclonus Very frequent (99-80%) - - - HP:0001457 - Abnormality of the musculature of the upper arm + + + HP:0000708 + Behavioral abnormality + + + Frequent (79-30%) + + + + + + HP:0000737 + Irritability + + + Frequent (79-30%) + + + + + + HP:0002321 + Vertigo + + + Frequent (79-30%) + + + + + + HP:0002664 + Neoplasm + + + Frequent (79-30%) + + + + + + HP:0003006 + Neuroblastoma + + + Frequent (79-30%) + + + + + + HP:0045084 + Limb myoclonus + + + Frequent (79-30%) + + + + + + HP:0100543 + Cognitive impairment + + + Frequent (79-30%) + + + + + + HP:0001298 + Encephalopathy Occasional (29-5%) - - - HP:0003083 - Dislocated radial head + + + HP:0002063 + Rigidity Occasional (29-5%) - - - HP:0030834 - Shoulder pain + + + HP:0002861 + Melanoma Occasional (29-5%) - - - HP:0030836 - Wrist pain + + + HP:0003002 + Breast carcinoma Occasional (29-5%) - - - HP:0001159 - Syndactyly + + + HP:0012226 + Ovarian teratoma - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0001374 - Congenital hip dislocation + + + HP:0030057 + Autoimmune antibody positivity - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0001762 - Talipes equinovarus + + + HP:0030357 + Small cell lung carcinoma - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0010442 - Polydactyly + + + HP:0031035 + Chronic infection - - Very rare (<4-1%) + + Occasional (29-5%) + + + + + + HP:0100526 + Neoplasm of the lung + + + Occasional (29-5%) - 28828125[PMID]_31138930[PMID] + 30232989[PMID]_30483882[PMID]_23622330[PMID] y y - 2020-12-15 00:00:00.0 + 2021-01-05 00:00:00.0 - - - 90291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291 - Systemic sclerosis + + + 3337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3337 + Primary Fanconi renotubular syndrome Disease Disorder - - - - HP:0001072 - Thickened skin + + + + HP:0000117 + Renal phosphate wasting Very frequent (99-80%) - - - HP:0002829 - Arthralgia + + + HP:0001510 + Growth delay Very frequent (99-80%) - - - HP:0003326 - Myalgia + + + HP:0002049 + Proximal renal tubular acidosis Very frequent (99-80%) - - - HP:0003493 - Antinuclear antibody positivity + + + HP:0002909 + Generalized aminoaciduria Very frequent (99-80%) - - - HP:0011024 - Abnormality of the gastrointestinal tract + + + HP:0003076 + Glycosuria Very frequent (99-80%) - - - HP:0030880 - Raynaud phenomenon + + + HP:0003126 + Low-molecular-weight proteinuria Very frequent (99-80%) - - - HP:0031359 - Cutaneous sclerotic plaque + + + HP:0003149 + Hyperuricosuria Very frequent (99-80%) - - - HP:0000077 - Abnormality of the kidney + + + HP:0003646 + Bicarbonaturia + + + Very frequent (99-80%) + + + + + + HP:0004910 + Bicarbonate-wasting renal tubular acidosis + + + Very frequent (99-80%) + + + + + + HP:0004918 + Hyperchloremic metabolic acidosis + + + Very frequent (99-80%) + + + + + + HP:0001324 + Muscle weakness Frequent (79-30%) - - - HP:0000160 - Narrow mouth + + + HP:0001824 + Weight loss Frequent (79-30%) - - - HP:0001009 - Telangiectasia + + + HP:0002148 + Hypophosphatemia Frequent (79-30%) - - - HP:0001232 - Nail bed telangiectasia + + + HP:0002653 + Bone pain Frequent (79-30%) - - - HP:0001324 - Muscle weakness + + + HP:0002659 + Increased susceptibility to fractures Frequent (79-30%) - - - HP:0001386 - Joint swelling + + + HP:0002749 + Osteomalacia Frequent (79-30%) - - - HP:0002031 - Abnormal esophagus morphology + + + HP:0002900 + Hypokalemia Frequent (79-30%) - - - HP:0002206 - Pulmonary fibrosis + + + HP:0003081 + Increased urinary potassium Frequent (79-30%) - - - HP:0003236 - Elevated serum creatine kinase + + + HP:0003234 + Decreased plasma carnitine Frequent (79-30%) - - - HP:0005590 - Spotty hypopigmentation + + + HP:0003537 + Hypouricemia Frequent (79-30%) - - - HP:0006121 - Acral ulceration + + + HP:0004912 + Hypophosphatemic rickets Frequent (79-30%) - - - HP:0006261 - Abnormal phalangeal joint morphology of the hand + + + HP:0012606 + Renal sodium wasting Frequent (79-30%) - - - HP:0006530 - Interstitial pulmonary abnormality + + + HP:0012622 + Chronic kidney disease Frequent (79-30%) - - - HP:0007400 - Irregular hyperpigmentation + + + HP:0001944 + Dehydration + + + Occasional (29-5%) + + + + + + HP:0002150 + Hypercalciuria + + + Occasional (29-5%) + + + + + + HP:0003774 + Stage 5 chronic kidney disease + + + Occasional (29-5%) + + + + + + HP:0001943 + Hypoglycemia + + + Very rare (<4-1%) + + + + + + HP:0002206 + Pulmonary fibrosis + + + Very rare (<4-1%) + + + + + + 30454741[PMID]_33283647[PMID]_31474092[PMID] + y + y + 2021-01-05 00:00:00.0 + + + + 3348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3348 + Tracheobronchopathia osteochondroplastica + + Disease + + + Disorder + + + + + HP:0002787 + Tracheal calcification + + + Very frequent (99-80%) + + + + + + HP:0031245 + Productive cough + + + Very frequent (99-80%) + + + + + + HP:0001945 + Fever Frequent (79-30%) - - - HP:0011838 - Sclerodactyly + + + HP:0002090 + Pneumonia Frequent (79-30%) - - - HP:0012531 - Pain + + + HP:0002205 + Recurrent respiratory infections Frequent (79-30%) - - - HP:0025131 - Finger swelling + + + HP:0002777 + Tracheal stenosis Frequent (79-30%) - - - HP:0025520 - Calcinosis cutis + + + HP:0002781 + Upper airway obstruction Frequent (79-30%) - - - HP:0030859 - Topoisomerase I antibody positivity + + + HP:0002875 + Exertional dyspnea Frequent (79-30%) - - - HP:0030873 - Anticentromere antibody positivity + + + HP:0005607 + Abnormal tracheobronchial morphology Frequent (79-30%) - - - HP:0031293 - Digital pitting scar + + + HP:0012387 + Bronchitis Frequent (79-30%) - - - HP:0031917 - Digital ulcer + + + HP:0025426 + Abnormal bronchus morphology Frequent (79-30%) - - - HP:0000083 - Renal insufficiency + + + HP:0032016 + Abnormal sputum + + + Frequent (79-30%) + + + + + + HP:0100593 + Calcification of cartilage + + + Frequent (79-30%) + + + + + + HP:0001609 + Hoarse voice Occasional (29-5%) - - - HP:0000093 - Proteinuria + + + HP:0002105 + Hemoptysis Occasional (29-5%) - - - HP:0000099 - Glomerulonephritis + + + HP:0006532 + Recurrent pneumonia Occasional (29-5%) - - - HP:0000966 - Hypohidrosis + + + HP:0010307 + Stridor Occasional (29-5%) - - - HP:0000989 - Pruritus + + + HP:0030828 + Wheezing Occasional (29-5%) - - - HP:0001279 - Syncope + + + HP:0031352 + Chest tightness Occasional (29-5%) - - - HP:0001369 - Arthritis + + + HP:0100633 + Esophagitis Occasional (29-5%) - - - HP:0001371 - Flexion contracture + + + HP:0100749 + Chest pain Occasional (29-5%) - - - HP:0001581 - Recurrent skin infections + + + HP:0002093 + Respiratory insufficiency + + + Very rare (<4-1%) + + + + + + HP:0100750 + Atelectasis + + + Very rare (<4-1%) + + + + + + 33183038[PMID]_2509829[PMID]_31171132[PMID]_32339049[PMID] + y + y + 2021-01-06 00:00:00.0 + + + + 1929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1929 + Rasmussen subacute encephalitis + + Disease + + + Disorder + + + + + HP:0004302 + Functional motor deficit + + + Very frequent (99-80%) + + + + + + HP:0007359 + Focal-onset seizure + + + Very frequent (99-80%) + + + + + + HP:0001269 + Hemiparesis + + + Frequent (79-30%) + + + + + + HP:0002119 + Ventriculomegaly + + + Frequent (79-30%) + + + + + + HP:0002349 + Focal aware seizure + + + Frequent (79-30%) + + + + + + HP:0002384 + Focal impaired awareness seizure + + + Frequent (79-30%) + + + + + + HP:0002960 + Autoimmunity + + + Frequent (79-30%) + + + + + + HP:0004305 + Involuntary movements + + + Frequent (79-30%) + + + + + + HP:0011153 + Focal motor seizure + + + Frequent (79-30%) + + + + + + HP:0011193 + EEG with focal spikes + + + Frequent (79-30%) + + + + + + HP:0011195 + EEG with focal sharp slow waves + + + Frequent (79-30%) + + + + + + HP:0012157 + Subcortical cerebral atrophy + + + Frequent (79-30%) + + + + + + HP:0012847 + Epilepsia partialis continua + + + Frequent (79-30%) + + + + + + HP:0032665 + Repeated focal motor seizures + + + Frequent (79-30%) + + + + + + HP:0100308 + Cerebral cortical hemiatrophy + + + Frequent (79-30%) + + + + + + HP:0100543 + Cognitive impairment + + + Frequent (79-30%) + + + + + + HP:0000572 + Visual loss Occasional (29-5%) - - - HP:0001596 - Alopecia + + + HP:0000708 + Behavioral abnormality Occasional (29-5%) - - - HP:0001701 - Pericarditis + + + HP:0000712 + Emotional lability Occasional (29-5%) - - - HP:0001708 - Right ventricular failure + + + HP:0000737 + Irritability Occasional (29-5%) - - - HP:0001919 - Acute kidney injury + + + HP:0000752 + Hyperactivity Occasional (29-5%) - - - HP:0002015 - Dysphagia + + + HP:0001260 + Dysarthria Occasional (29-5%) - - - HP:0002020 - Gastroesophageal reflux + + + HP:0001328 + Specific learning disability Occasional (29-5%) - - - HP:0002092 - Pulmonary arterial hypertension + + + HP:0002134 + Abnormality of the basal ganglia Occasional (29-5%) - - - HP:0002094 - Dyspnea + + + HP:0002354 + Memory impairment Occasional (29-5%) - - - HP:0002244 - Abnormality of the small intestine + + + HP:0002357 + Dysphasia Occasional (29-5%) - - - HP:0002250 - Abnormal large intestine morphology + + + HP:0002540 + Inability to walk Occasional (29-5%) - - - HP:0002577 - Abnormality of the stomach + + + HP:0002921 + Abnormality of the cerebrospinal fluid Occasional (29-5%) - - - HP:0002578 - Gastroparesis + + + HP:0002922 + Increased CSF protein Occasional (29-5%) - - - HP:0002584 - Intestinal bleeding + + + HP:0003493 + Antinuclear antibody positivity Occasional (29-5%) - - - HP:0002604 - Gastrointestinal telangiectasia + + + HP:0007018 + Attention deficit hyperactivity disorder Occasional (29-5%) - - - HP:0002607 - Bowel incontinence + + + HP:0007334 + Generalized tonic-clonic seizures with focal onset Occasional (29-5%) - - - HP:0002617 - Dilatation + + + HP:0010818 + Generalized tonic seizures Occasional (29-5%) - - - HP:0002754 - Osteomyelitis + + + HP:0011163 + Somatosensory auras Occasional (29-5%) - - - HP:0009771 - Osteolytic defects of the phalanges of the hand + + + HP:0011182 + Interictal epileptiform activity Occasional (29-5%) - - - HP:0011799 - Abnormality of facial soft tissue + + + HP:0011185 + EEG with focal epileptiform discharges Occasional (29-5%) - - - HP:0012185 - Constrictive median neuropathy + + + HP:0012708 + Reduced brain N-acetyl aspartate level by MRS Occasional (29-5%) - - - HP:0012592 - Albuminuria + + + HP:0020151 + Anti-DNA antibody positivity Occasional (29-5%) - - - HP:0012622 - Chronic kidney disease + + + HP:0025190 + Generalized tonic-clonic seizures without focal onset Occasional (29-5%) - - - HP:0012819 - Myocarditis + + + HP:0031491 + Continuous spike and waves during slow sleep Occasional (29-5%) - - - HP:0031329 - Interstitial cardiac fibrosis + + + HP:0031535 + Increased theta frequency activity in EEG Occasional (29-5%) - - - HP:0100580 - Barrett esophagus + + + HP:0032005 + Hemidystonia Occasional (29-5%) - - - HP:0100758 - Gangrene + + + HP:0032046 + Focal cortical dysplasia + + + Occasional (29-5%) + + + + + + HP:0100660 + Dyskinesia + + + Occasional (29-5%) + + + + + + HP:0002283 + Global brain atrophy + + + Very rare (<4-1%) + + + + + + HP:0003460 + Decreased circulating total IgA + + + Very rare (<4-1%) + + + + + + HP:0011097 + Epileptic spasms + + + Very rare (<4-1%) + + + + + + HP:0032661 + Generalized convulsive status epilepticus Very rare (<4-1%) @@ -972422,407 +972390,377 @@ - 28792092[PMID]_31498665[PMID]_26577237[PMID] + 30530407[PMID]_28572051[PMID] y y - 2020-12-11 00:00:00.0 + 2021-01-06 00:00:00.0 - - - 437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437 - Hypophosphatemic rickets - - Clinical group + + + 73 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73 + Gorham-Stout disease + + Malformation syndrome - - Group of disorders + + Disorder - - - - HP:0002148 - Hypophosphatemia + + + + HP:0002797 + Osteolysis Very frequent (99-80%) - - - HP:0002653 - Bone pain + + + HP:0010639 + Elevated alkaline phosphatase of bone origin Very frequent (99-80%) - - - HP:0002748 - Rickets + + + HP:0010657 + Patchy reduction of bone mineral density Very frequent (99-80%) - - - HP:0001324 - Muscle weakness + + + HP:0000473 + Torticollis Frequent (79-30%) - - - HP:0001508 - Failure to thrive + + + HP:0000938 + Osteopenia Frequent (79-30%) - - - HP:0002749 - Osteomalacia + + + HP:0000969 + Edema Frequent (79-30%) - - - HP:0003109 - Hyperphosphaturia + + + HP:0002653 + Bone pain Frequent (79-30%) - - - HP:0003155 - Elevated alkaline phosphatase + + + HP:0002683 + Abnormality of the calvaria Frequent (79-30%) - - - HP:0003498 - Disproportionate short stature + + + HP:0003319 + Abnormality of the cervical spine Frequent (79-30%) - - - HP:0006487 - Bowing of the long bones + + + HP:0004302 + Functional motor deficit Frequent (79-30%) - - - HP:0040069 - Abnormal lower limb bone morphology + + + HP:0005216 + Impaired mastication Frequent (79-30%) - - - HP:0000083 - Renal insufficiency + + + HP:0005731 + Cortical irregularity - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0000117 - Renal phosphate wasting + + + HP:0009139 + Osteolysis involving bones of the lower limbs - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0000164 - Abnormality of the dentition + + + HP:0010754 + Abnormality of the temporomandibular joint - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0000694 - Shell teeth + + + HP:0011384 + Abnormality of the internal auditory canal - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0001387 - Joint stiffness + + + HP:0011821 + Abnormality of facial skeleton - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0002150 - Hypercalciuria + + + HP:0011849 + Abnormal bone ossification - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0003127 - Hypocalciuria + + + HP:0012294 + Abnormality of the occipital bone - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0004963 - Calcification of the aorta + + + HP:0031417 + Rhinorrhea - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0010766 - Ectopic calcification + + + HP:0045039 + Osteolysis involving bones of the upper limbs - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0012052 - Low serum calcitriol + + + HP:0100764 + Lymphangioma - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0020110 - Bone fracture + + + HP:0200025 + Mandibular pain - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0030757 - Tooth abscess + + + HP:0000265 + Mastoiditis Occasional (29-5%) - - - HP:0030758 - Periapical tooth abscess + + + HP:0000365 + Hearing impairment Occasional (29-5%) - - - HP:0100512 - Low levels of vitamin D + + + HP:0001167 + Abnormality of finger Occasional (29-5%) - - - HP:0100686 - Enthesitis + + + HP:0002202 + Pleural effusion Occasional (29-5%) - - - HP:0000121 - Nephrocalcinosis - - - Very rare (<4-1%) - - - - - - HP:0000826 - Precocious puberty - - - Very rare (<4-1%) - - - - - - HP:0000836 - Hyperthyroidism - - - Very rare (<4-1%) - - - - - - HP:0000843 - Hyperparathyroidism + + + HP:0002756 + Pathologic fracture - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0003072 - Hypercalcemia + + + HP:0002823 + Abnormality of femur morphology - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0003165 - Elevated circulating parathyroid hormone level + + + HP:0007099 + Arnold-Chiari type I malformation - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0004484 - Craniofacial asymmetry + + + HP:0007461 + Hemangiomatosis - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0005464 - Craniofacial osteosclerosis + + + HP:0045027 + Abnormality of the thoracic cavity - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0007565 - Multiple cafe-au-lait spots + + + HP:0430005 + Abnormality of ethmoid bone - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0008208 - Parathyroid hyperplasia + + + HP:0001287 + Meningitis Very rare (<4-1%) - - - HP:0010659 - Patchy variation in bone mineral density + + + HP:0002176 + Spinal cord compression Very rare (<4-1%) - - - HP:0010734 - Fibrous dysplasia of the bones + + + HP:0002754 + Osteomyelitis Very rare (<4-1%) - - - HP:0100774 - Hyperostosis + + + HP:0040163 + Abnormal pelvis bone morphology Very rare (<4-1%) @@ -972831,2484 +972769,2363 @@ - 23108197 [PMID]_30454743[PMID] +  25405099[PMID]_28004375[PMID]_27829197[PMID] y y - 2020-12-14 00:00:00.0 + 2021-01-07 00:00:00.0 - - - 576283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283 - SATB2-associated syndrome due to a pathogenic variant - - Etiological subtype + + + 3008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3008 + Pyruvate carboxylase deficiency + + Disease - - Subtype of disorder + + Disorder - - - - HP:0000164 - Abnormality of the dentition - - - Very frequent (99-80%) - - - - - - HP:0001249 - Intellectual disability + + + + HP:0002151 + Increased serum lactate Very frequent (99-80%) - - - HP:0001263 - Global developmental delay + + + HP:0003128 + Lactic acidosis Very frequent (99-80%) - - - HP:0001999 - Abnormal facial shape + + + HP:0032653 + Elevated lactate:pyruvate ratio Very frequent (99-80%) - - - HP:0000175 - Cleft palate + + + HP:0001250 + Seizures Frequent (79-30%) - - - HP:0000219 - Thin upper lip vermilion + + + HP:0001508 + Failure to thrive Frequent (79-30%) - - - HP:0000319 - Smooth philtrum + + + HP:0001510 + Growth delay Frequent (79-30%) - - - HP:0000324 - Facial asymmetry + + + HP:0001942 + Metabolic acidosis Frequent (79-30%) - - - HP:0000343 - Long philtrum + + + HP:0001987 + Hyperammonemia Frequent (79-30%) - - - HP:0000347 - Micrognathia + + + HP:0002161 + Hyperlysinemia Frequent (79-30%) - - - HP:0000490 - Deeply set eye + + + HP:0002490 + Increased CSF lactate Frequent (79-30%) - - - HP:0000504 - Abnormality of vision + + + HP:0003348 + Hyperalaninemia Frequent (79-30%) - - - HP:0000708 - Behavioral abnormality + + + HP:0003542 + Increased serum pyruvate Frequent (79-30%) - - - HP:0000729 - Autistic behavior + + + HP:0003648 + Lacticaciduria Frequent (79-30%) - - - HP:0000924 - Abnormality of the skeletal system + + + HP:0008358 + Hyperprolinemia Frequent (79-30%) - - - HP:0000938 - Osteopenia + + + HP:0011966 + Elevated plasma citrulline Frequent (79-30%) - - - HP:0001344 - Absent speech + + + HP:0012644 + Increased caudate lactate level Frequent (79-30%) - - - HP:0002307 - Drooling + + + HP:0012706 + Elevated brain choline level by MRS Frequent (79-30%) - - - HP:0002342 - Intellectual disability, moderate + + + HP:0012707 + Elevated brain lactate level by MRS Frequent (79-30%) - - - HP:0002360 - Sleep disturbance + + + HP:0012708 + Reduced brain N-acetyl aspartate level by MRS Frequent (79-30%) - - - HP:0002500 - Abnormality of the cerebral white matter + + + HP:0012758 + Neurodevelopmental delay Frequent (79-30%) - - - HP:0007018 - Attention deficit hyperactivity disorder + + + HP:0410068 + Increased level of L-glutamic acid in blood Frequent (79-30%) - - - HP:0008872 - Feeding difficulties in infancy + + + HP:0410175 + Hyperketonemia Frequent (79-30%) - - - HP:0008897 - Postnatal growth retardation + + + HP:0500147 + Hypoglutaminemia Frequent (79-30%) - - - HP:0008947 - Infantile muscular hypotonia + + + HP:0500181 + Hypertaurinemia Frequent (79-30%) - - - HP:0010864 - Intellectual disability, severe + + + HP:0500198 + Decreased CSF glutamine concentration Frequent (79-30%) - - - HP:0011304 - Broad thumb + + + HP:0500200 + Increased CSF glutamate concentration Frequent (79-30%) - - - HP:0012448 - Delayed myelination + + + HP:0500231 + Abnormal CSF pyruvate family amino acid concentration Frequent (79-30%) - - - HP:0040082 - Happy demeanor + + + HP:0500233 + Increased CSF alanine concentration Frequent (79-30%) - - - HP:0410263 - Brain imaging abnormality + + + HP:0500246 + Increased CSF citrulline concentration Frequent (79-30%) - - - HP:0000193 - Bifid uvula + + + HP:0000639 + Nystagmus Occasional (29-5%) - - - HP:0000218 - High palate + + + HP:0000722 + Obsessive-compulsive behavior Occasional (29-5%) - - - HP:0000486 - Strabismus + + + HP:0000741 + Apathy Occasional (29-5%) - - - HP:0000951 - Abnormality of the skin + + + HP:0000817 + Poor eye contact Occasional (29-5%) - - - HP:0001155 - Abnormality of the hand + + + HP:0001249 + Intellectual disability Occasional (29-5%) - - - HP:0001250 - Seizures + + + HP:0001251 + Ataxia Occasional (29-5%) - - - HP:0001382 - Joint hypermobility + + + HP:0001252 + Muscular hypotonia Occasional (29-5%) - - - HP:0001510 - Growth delay + + + HP:0001262 + Excessive daytime somnolence Occasional (29-5%) - - - HP:0001601 - Laryngomalacia + + + HP:0001274 + Agenesis of corpus callosum Occasional (29-5%) - - - HP:0001773 - Short foot + + + HP:0001290 + Generalized hypotonia Occasional (29-5%) - - - HP:0002015 - Dysphagia + + + HP:0001332 + Dystonia Occasional (29-5%) - - - HP:0002020 - Gastroesophageal reflux + + + HP:0001337 + Tremor Occasional (29-5%) - - - HP:0002465 - Poor speech + + + HP:0001943 + Hypoglycemia Occasional (29-5%) - - - HP:0002608 - Celiac disease + + + HP:0001944 + Dehydration Occasional (29-5%) - - - HP:0004209 - Clinodactyly of the 5th finger + + + HP:0002013 + Vomiting Occasional (29-5%) - - - HP:0011147 - Typical absence seizure + + + HP:0002039 + Anorexia Occasional (29-5%) - - - HP:0100559 - Lower limb asymmetry + + + HP:0002119 + Ventriculomegaly Occasional (29-5%) - - - HP:0100886 - Abnormality of globe location + + + HP:0002240 + Hepatomegaly Occasional (29-5%) - - -  28139846[PMID]_ 28139846[PMID]_ 28139846[PMID] - y - y - 2020-11-19 00:00:00.0 - - - - 251028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028 - SATB2-associated syndrome due to a chromosomal rearrangement - - Etiological subtype - - - Subtype of disorder - - - - - HP:0000343 - Long philtrum + + + HP:0002416 + Subependymal cysts Occasional (29-5%) - - - HP:0000356 - Abnormality of the outer ear + + + HP:0002465 + Poor speech Occasional (29-5%) - - - HP:0000369 - Low-set ears + + + HP:0002789 + Tachypnea Occasional (29-5%) - - - HP:0000444 - Convex nasal ridge + + + HP:0002793 + Abnormal pattern of respiration Occasional (29-5%) - - - HP:0000445 - Wide nose + + + HP:0003074 + Hyperglycemia Occasional (29-5%) - - - HP:0001263 - Global developmental delay - - - Very frequent (99-80%) - - - - - - HP:0001344 - Absent speech - - - Very frequent (99-80%) - - - - - - HP:0000164 - Abnormality of the dentition - - - Frequent (79-30%) - - - - - - HP:0000175 - Cleft palate - - - Frequent (79-30%) - - - - - - HP:0000218 - High palate - - - Frequent (79-30%) - - - - - - HP:0000252 - Microcephaly - - - Frequent (79-30%) - - - - - - HP:0000347 - Micrognathia - - - Frequent (79-30%) - - - - - - HP:0000348 - High forehead - - - Frequent (79-30%) - - - - - - HP:0000426 - Prominent nasal bridge - - - Frequent (79-30%) - - - - - - HP:0000540 - Hypermetropia - - - Frequent (79-30%) - - - - - - HP:0000708 - Behavioral abnormality - - - Frequent (79-30%) - - - - - - HP:0000718 - Aggressive behavior - - - Frequent (79-30%) - - - - - - HP:0001252 - Muscular hypotonia - - - Frequent (79-30%) - - - - - - HP:0001776 - Bilateral talipes equinovarus - - - Frequent (79-30%) - - - - - - HP:0001999 - Abnormal facial shape - - - Frequent (79-30%) - - - - - - HP:0002307 - Drooling - - - Frequent (79-30%) - - - - - - HP:0008070 - Sparse hair - - - Frequent (79-30%) - - - - - - HP:0008734 - Decreased testicular size + + + HP:0003228 + Hypernatremia - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0008872 - Feeding difficulties in infancy + + + HP:0003265 + Neonatal hyperbilirubinemia - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0010864 - Intellectual disability, severe + + + HP:0003429 + CNS hypomyelination - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0011220 - Prominent forehead + + + HP:0006999 + Basal ganglia gliosis - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0011344 - Severe global developmental delay + + + HP:0007109 + Periventricular cysts - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0011470 - Nasogastric tube feeding in infancy + + + HP:0007256 + Abnormal pyramidal sign - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0000028 - Cryptorchidism + + + HP:0011169 + Generalized clonic seizures Occasional (29-5%) - - - HP:0000054 - Micropenis + + + HP:0012448 + Delayed myelination Occasional (29-5%) - - - HP:0000160 - Narrow mouth + + + HP:0012469 + Infantile spasms Occasional (29-5%) - - - HP:0000201 - Pierre-Robin sequence + + + HP:0012698 + Cerebellar gliosis Occasional (29-5%) - - - HP:0000256 - Macrocephaly + + + HP:0012762 + Cerebral white matter atrophy Occasional (29-5%) - - - HP:0000275 - Narrow face + + + HP:0025160 + Abnormal temper tantrums Occasional (29-5%) - - - HP:0000276 - Long face + + + HP:0025336 + Delayed ability to sit Occasional (29-5%) - - - HP:0000322 - Short philtrum + + + HP:0030051 + Tip-toe gait Occasional (29-5%) - - - HP:0000324 - Facial asymmetry + + + HP:0030890 + Hyperintensity of cerebral white matter on MRI Occasional (29-5%) - - - HP:0000470 - Short neck + + + HP:0100660 + Dyskinesia Occasional (29-5%) - - - HP:0000478 - Abnormality of the eye + + + HP:0001259 + Coma - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0000490 - Deeply set eye + + + HP:0100023 + Recurrent hand flapping - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0000494 - Downslanted palpebral fissures + + + 30870574[PMID]_20301764[PMID] + y + y + 2021-01-07 00:00:00.0 + + + + 99 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99 + Autosomal dominant cerebellar ataxia + + Category + + + Group of disorders + + + + + HP:0001308 + Tongue fasciculations Occasional (29-5%) - - - HP:0000589 - Coloboma + + + HP:0001332 + Dystonia Occasional (29-5%) - - - HP:0000620 - Dacryocystitis + + + HP:0001336 + Myoclonus Occasional (29-5%) - - - HP:0000678 - Dental crowding + + + HP:0001618 + Dysphonia Occasional (29-5%) - - - HP:0000689 - Dental malocclusion + + + HP:0001761 + Pes cavus Occasional (29-5%) - - - HP:0000691 - Microdontia + + + HP:0002063 + Rigidity Occasional (29-5%) - - - HP:0000711 - Restlessness + + + HP:0002072 + Chorea Occasional (29-5%) - - - HP:0000742 - Self-mutilation + + + HP:0002174 + Postural tremor Occasional (29-5%) - - - HP:0000938 - Osteopenia + + + HP:0002304 + Akinesia Occasional (29-5%) - - - HP:0001238 - Slender finger + + + HP:0002310 + Orofacial dyskinesia Occasional (29-5%) - - - HP:0001250 - Seizures + + + HP:0002322 + Resting tremor Occasional (29-5%) - - - HP:0001276 - Hypertonia + + + HP:0002342 + Intellectual disability, moderate Occasional (29-5%) - - - HP:0001575 - Mood changes + + + HP:0002345 + Action tremor Occasional (29-5%) - - - HP:0001629 - Ventricular septal defect + + + HP:0002380 + Fasciculations Occasional (29-5%) - - - HP:0001762 - Talipes equinovarus + + + HP:0002461 + Dense calcifications in the cerebellar dentate nucleus Occasional (29-5%) - - - HP:0001773 - Short foot + + + HP:0002495 + Impaired vibratory sensation Occasional (29-5%) - - - HP:0002007 - Frontal bossing + + + HP:0003202 + Skeletal muscle atrophy Occasional (29-5%) - - - HP:0002011 - Morphological abnormality of the central nervous system + + + HP:0003474 + Sensory impairment Occasional (29-5%) - - - HP:0002061 - Lower limb spasticity + + + HP:0004305 + Involuntary movements Occasional (29-5%) - - - HP:0002136 - Broad-based gait + + + HP:0007024 + Pseudobulbar paralysis Occasional (29-5%) - - - HP:0002213 - Fine hair + + + HP:0007067 + Distal peripheral sensory neuropathy Occasional (29-5%) - - - HP:0002591 - Polyphagia + + + HP:0007141 + Sensorimotor neuropathy Occasional (29-5%) - - - HP:0002659 - Increased susceptibility to fractures + + + HP:0007338 + Hypermetric saccades Occasional (29-5%) - - - HP:0002761 - Generalized joint laxity + + + HP:0007817 + Horizontal supranuclear gaze palsy Occasional (29-5%) - - - HP:0002815 - Abnormality of the knee + + + HP:0010526 + Dysgraphia Occasional (29-5%) - - - HP:0002870 - Obstructive sleep apnea + + + HP:0010530 + Palatal myoclonus Occasional (29-5%) - - - HP:0002938 - Lumbar hyperlordosis + + + HP:0010783 + Erythema Occasional (29-5%) - - - HP:0002982 - Tibial bowing + + + HP:0010831 + Impaired proprioception Occasional (29-5%) - - - HP:0003196 - Short nose + + + HP:0011168 + Eyelid myoclonias Occasional (29-5%) - - - HP:0003241 - External genital hypoplasia + + + HP:0012049 + Laryngeal dystonia Occasional (29-5%) - - - HP:0003272 - Abnormality of the hip bone + + + HP:0012473 + Tongue atrophy Occasional (29-5%) - - - HP:0004209 - Clinodactyly of the 5th finger + + + HP:0000027 + Azoospermia - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0004482 - Relative macrocephaly + + + HP:0000473 + Torticollis - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0005469 - Flat occiput + + + HP:0001337 + Tremor - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0006349 - Agenesis of permanent teeth + + + HP:0002073 + Progressive cerebellar ataxia - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0008897 - Postnatal growth retardation + + + HP:0100543 + Cognitive impairment - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0010055 - Broad hallux + + + HP:0000496 + Abnormality of eye movement - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0011304 - Broad thumb + + + HP:0000763 + Sensory neuropathy - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0011339 - Abnormality of upper lip vermillion + + + HP:0001265 + Hyporeflexia - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0012428 - Prominent calcaneus + + + HP:0001271 + Polyneuropathy - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0020045 - Esodeviation + + + HP:0001288 + Gait disturbance - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0200055 - Small hand + + + HP:0001324 + Muscle weakness - - Occasional (29-5%) + + Frequent (79-30%) - - - 19668335[PMID]_21343628[PMID] - y - y - 2020-11-19 00:00:00.0 - - - - 177910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 - Prader-Willi syndrome due to imprinting mutation - - Etiological subtype - - - Subtype of disorder - - - - - HP:0000708 - Behavioral abnormality + + + HP:0002071 + Abnormality of extrapyramidal motor function Frequent (79-30%) - - - HP:0001263 - Global developmental delay + + + HP:0002378 + Hand tremor Frequent (79-30%) - - - HP:0001319 - Neonatal hypotonia + + + HP:0002385 + Paraparesis Frequent (79-30%) - - - HP:0001513 - Obesity + + + HP:0002423 + Long-tract signs Frequent (79-30%) - - - HP:0001558 - Decreased fetal movement + + + HP:0002493 + Upper motor neuron dysfunction Frequent (79-30%) - - - HP:0001773 - Short foot + + + HP:0003390 + Sensory axonal neuropathy Frequent (79-30%) - - - HP:0001999 - Abnormal facial shape + + + HP:0003477 + Peripheral axonal neuropathy Frequent (79-30%) - - - HP:0002591 - Polyphagia + + + HP:0006801 + Hyperactive deep tendon reflexes Frequent (79-30%) - - - HP:0004322 - Short stature + + + HP:0007256 + Abnormal pyramidal sign Frequent (79-30%) - - - HP:0008872 - Feeding difficulties in infancy + + + HP:0007305 + CNS demyelination Frequent (79-30%) - - - HP:0200055 - Small hand + + + HP:0009830 + Peripheral neuropathy Frequent (79-30%) - - - HP:0004039 - Abnormality of ulnar metaphysis + + + HP:0000407 + Sensorineural hearing impairment Occasional (29-5%) - - - HP:0004283 - Narrow palm + + + HP:0000508 + Ptosis Occasional (29-5%) - - - HP:0000044 - Hypogonadotrophic hypogonadism + + + HP:0000514 + Slow saccadic eye movements - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0001010 - Hypopigmentation of the skin + + + HP:0000520 + Proptosis - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0003241 - External genital hypoplasia + + + HP:0000546 + Retinal degeneration - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0005599 - Hypopigmentation of hair + + + HP:0000572 + Visual loss - - Very rare (<4-1%) + + Occasional (29-5%) - - - HP:0007730 - Iris hypopigmentation + + + HP:0000580 + Pigmentary retinopathy - - Very rare (<4-1%) + + Occasional (29-5%) - - - 17095305[PMID]_9028458[PMID]_17095305[PMID] - y - y - 2020-11-18 00:00:00.0 - - - - 177907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 - Prader-Willi syndrome due to translocation - - Etiological subtype - - - Subtype of disorder - - - - - HP:0001513 - Obesity + + + HP:0000597 + Ophthalmoparesis - - Very frequent (99-80%) + + Occasional (29-5%) - - - HP:0001612 - Weak cry + + + HP:0000608 + Macular degeneration - - Very frequent (99-80%) + + Occasional (29-5%) - - - HP:0002033 - Poor suck + + + HP:0000639 + Nystagmus - - Very frequent (99-80%) + + Occasional (29-5%) - - - HP:0008872 - Feeding difficulties in infancy + + + HP:0000708 + Behavioral abnormality - - Very frequent (99-80%) + + Occasional (29-5%) - - - HP:0000044 - Hypogonadotrophic hypogonadism + + + HP:0000726 + Dementia - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0000219 - Thin upper lip vermilion + + + HP:0000962 + Hyperkeratosis - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0000341 - Narrow forehead + + + HP:0001250 + Seizures - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0000824 - Growth hormone deficiency + + + HP:0001257 + Spasticity - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0001256 - Intellectual disability, mild + + + HP:0001260 + Dysarthria - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0001319 - Neonatal hypotonia + + + HP:0001266 + Choreoathetosis - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0001773 - Short foot + + + HP:0001284 + Areflexia - - Frequent (79-30%) + + Occasional (29-5%) - - - HP:0001999 - Abnormal facial shape + + + HP:0001300 + Parkinsonism + + + Occasional (29-5%) + + + + + + 27220866[PMID]_29325610[PMID] + y + y + 2021-01-08 00:00:00.0 + + + + 2442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2442 + X-linked lymphoproliferative disease + + Clinical group + + + Group of disorders + + + + + HP:0001945 + Fever Frequent (79-30%) - - - HP:0002098 - Respiratory distress + + + HP:0002961 + Dysgammaglobulinemia Frequent (79-30%) - - - HP:0002205 - Recurrent respiratory infections + + + HP:0004313 + Decreased antibody level in blood Frequent (79-30%) - - - HP:0002714 - Downturned corners of mouth + + + HP:0004315 + Decreased circulating IgG level Frequent (79-30%) - - - HP:0003241 - External genital hypoplasia + + + HP:0012156 + Hemophagocytosis Frequent (79-30%) - - - HP:0004322 - Short stature + + + HP:0012191 + B-cell lymphoma Frequent (79-30%) - - - HP:0006829 - Severe muscular hypotonia + + + HP:0025289 + Cervical lymphadenopathy Frequent (79-30%) - - - HP:0007874 - Almond-shaped palpebral fissure + + + HP:0030812 + Enlarged tonsils Frequent (79-30%) - - - HP:0010627 - Anterior pituitary hypoplasia + + + HP:0031693 + Severe Epstein Barr virus infection Frequent (79-30%) - - - HP:0025160 - Abnormal temper tantrums + + + HP:0100727 + Histiocytosis Frequent (79-30%) - - - HP:0200055 - Small hand + + + HP:0100827 + Lymphocytosis Frequent (79-30%) - - - HP:0000077 - Abnormality of the kidney + + + HP:0001399 + Hepatic failure Occasional (29-5%) - - - HP:0000154 - Wide mouth + + + HP:0001410 + Decreased liver function Occasional (29-5%) - - - HP:0000175 - Cleft palate + + + HP:0001433 + Hepatosplenomegaly Occasional (29-5%) - - - HP:0000193 - Bifid uvula + + + HP:0001744 + Splenomegaly Occasional (29-5%) - - - HP:0000218 - High palate + + + HP:0001876 + Pancytopenia Occasional (29-5%) - - - HP:0000232 - Everted lower lip vermilion + + + HP:0002037 + Inflammation of the large intestine Occasional (29-5%) - - - HP:0000252 - Microcephaly + + + HP:0002155 + Hypertriglyceridemia Occasional (29-5%) - - - HP:0000278 - Retrognathia + + + HP:0002205 + Recurrent respiratory infections Occasional (29-5%) - - - HP:0000316 - Hypertelorism + + + HP:0002716 + Lymphadenopathy Occasional (29-5%) - - - HP:0000347 - Micrognathia + + + HP:0002720 + Decreased circulating IgA level Occasional (29-5%) - - - HP:0000384 - Preauricular skin tag + + + HP:0002850 + Decreased circulating total IgM Occasional (29-5%) - - - HP:0000446 - Narrow nasal bridge + + + HP:0002910 + Elevated hepatic transaminase Occasional (29-5%) - - - HP:0000448 - Prominent nose + + + HP:0003256 + Abnormality of the coagulation cascade Occasional (29-5%) - - - HP:0000455 - Broad nasal tip + + + HP:0003261 + Increased circulating IgA level Occasional (29-5%) - - - HP:0000463 - Anteverted nares + + + HP:0003281 + Increased serum ferritin Occasional (29-5%) - - - HP:0000470 - Short neck + + + HP:0003496 + Increased circulating IgM level Occasional (29-5%) - - - HP:0000486 - Strabismus + + + HP:0005403 + Decrease in T cell count Occasional (29-5%) - - - HP:0000490 - Deeply set eye + + + HP:0005404 + Increased B cell count Occasional (29-5%) - - - HP:0000520 - Proptosis + + + HP:0005528 + Bone marrow hypocellularity Occasional (29-5%) - - - HP:0000540 - Hypermetropia + + + HP:0010976 + B lymphocytopenia Occasional (29-5%) - - - HP:0000545 - Myopia + + + HP:0011900 + Hypofibrinogenemia Occasional (29-5%) - - - HP:0000582 - Upslanted palpebral fissure + + + HP:0031408 + Increased proportion of CD25+ mast cells Occasional (29-5%) - - - HP:0000601 - Hypotelorism + + + HP:0040218 + Reduced natural killer cell count Occasional (29-5%) - - - HP:0000670 - Carious teeth + + + HP:0040219 + Absent natural killer cells Occasional (29-5%) - - - HP:0000708 - Behavioral abnormality + + + HP:0100828 + Increased T cell count Occasional (29-5%) - - - HP:0000722 - Obsessive-compulsive behavior + + + HP:0000123 + Nephritis - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0000733 - Stereotypy + + + HP:0001915 + Aplastic anemia - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0000735 - Impaired social interactions + + + HP:0002583 + Colitis - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0000739 - Anxiety + + + HP:0002605 + Hepatic necrosis - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0000750 - Delayed speech and language development + + + HP:0002633 + Vasculitis - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0000953 - Hyperpigmentation of the skin + + + HP:0002955 + Granulomatosis - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001010 - Hypopigmentation of the skin + + + HP:0002960 + Autoimmunity - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001156 - Brachydactyly + + + HP:0004787 + Fulminant hepatitis - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001250 - Seizures + + + HP:0012819 + Myocarditis - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001263 - Global developmental delay + + + HP:0030080 + Burkitt lymphoma - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001265 - Hyporeflexia + + + HP:0030250 + Pulmonary granulomatosis - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001344 - Absent speech + + + 21083659[PMID]_20301580[PMID]_31352986[PMID] + y + y + 2021-01-08 00:00:00.0 + + + + 465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465 + Congenital plasminogen activator inhibitor type 1 deficiency + + Disease + + + Disorder + + + + + HP:0011854 + Hemoperitoneum - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001347 - Hyperreflexia + + + HP:0012233 + Intramuscular hematoma - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001511 - Intrauterine growth retardation + + + HP:0100310 + Epidural hemorrhage - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0001562 - Oligohydramnios + + + HP:0007420 + Spontaneous hematomas - - Occasional (29-5%) + + Excluded (0%) - - - HP:0001611 - Nasal speech + + + HP:0001934 + Persistent bleeding after trauma - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0001627 - Abnormal heart morphology + + + HP:0004846 + Prolonged bleeding after surgery - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0001643 - Patent ductus arteriosus + + + HP:0040228 + Decreased level of plasminogen - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0001655 - Patent foramen ovale + + + HP:0040230 + Decreased level of tissue plasminogen activator - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0001763 - Pes planus + + + HP:0040245 + Reduced alpha-2-antiplasmin activity - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0001776 - Bilateral talipes equinovarus + + + HP:0040248 + Reduced plasminogen activator inhibitor 1 activity - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0001845 - Overlapping toe + + + HP:0040249 + Reduced plasminogen activator inhibitor 1 antigen - - Occasional (29-5%) + + Very frequent (99-80%) - - - HP:0002120 - Cerebral cortical atrophy + + + HP:0000132 + Menorrhagia - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0002650 - Scoliosis + + + HP:0001622 + Premature birth - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0003196 - Short nose + + + HP:0001933 + Subcutaneous hemorrhage - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0004209 - Clinodactyly of the 5th finger + + + HP:0005268 + Spontaneous abortion - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0005469 - Flat occiput + + + HP:0000421 + Epistaxis Occasional (29-5%) - - - HP:0005599 - Hypopigmentation of hair + + + HP:0002170 + Intracranial hemorrhage Occasional (29-5%) - - - HP:0006347 - Microdontia of primary teeth + + + HP:0002239 + Gastrointestinal hemorrhage Occasional (29-5%) - - - HP:0006956 - Dilation of lateral ventricles + + + HP:0006298 + Prolonged bleeding after dental extraction Occasional (29-5%) - - - HP:0007018 - Attention deficit hyperactivity disorder + + + HP:0011891 + Post-partum hemorrhage Occasional (29-5%) - - - HP:0007730 - Iris hypopigmentation + + + HP:0030657 + Umbilical cord hematoma Occasional (29-5%) - - - HP:0009085 - Alveolar ridge overgrowth + + + HP:0040184 + Oral bleeding Occasional (29-5%) - - - HP:0010801 - Underdeveloped nasolabial fold + + + HP:0001058 + Poor wound healing - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0010864 - Intellectual disability, severe + + + HP:0001685 + Myocardial fibrosis - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0011470 - Nasogastric tube feeding in infancy + + + HP:0005261 + Joint hemorrhage - - Occasional (29-5%) + + Very rare (<4-1%) - - - HP:0012166 - Skin-picking + + + 31427261[PMID]_28771291[PMID]_31469483[PMID] + y + y + 2021-01-12 00:00:00.0 + + + + 79433 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433 + Oculocutaneous albinism type 3 + + Disease + + + Disorder + + + + + HP:0000635 + Blue irides - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0012168 - Head-banging + + + HP:0000639 + Nystagmus - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0012433 - Abnormal social behavior + + + HP:0001010 + Hypopigmentation of the skin - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0012704 - Widened subarachnoid space + + + HP:0001480 + Freckling - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0012775 - Stellate iris + + + HP:0002297 + Red hair + + + Frequent (79-30%) + + + + + + HP:0007730 + Iris hypopigmentation + + + Frequent (79-30%) + + + + + + HP:0011358 + Generalized hypopigmentation of hair + + + Frequent (79-30%) + + + + + + HP:0000486 + Strabismus Occasional (29-5%) - - - HP:0030084 - Clinodactyly + + + HP:0002226 + White eyebrow Occasional (29-5%) - - - HP:0040025 - Clinodactyly of the 4th finger + + + HP:0002227 + White eyelashes Occasional (29-5%) - - - HP:0040082 - Happy demeanor + + + HP:0025551 + Optic nerve misrouting Occasional (29-5%) - - - HP:0100704 - Cerebral visual impairment + + + HP:0100814 + Blue nevus Occasional (29-5%) - - - HP:0200096 - Triangular-shaped open mouth + + + HP:0200098 + Absent skin pigmentation Occasional (29-5%) @@ -975317,307 +975134,12379 @@ - 31394532[PMID]_31816617[PMID]_31394532[PMID] + 21996312[PMID]_21739261[PMID]_9345097[PMID]_20301683[PMID] y y - 2020-11-17 00:00:00.0 + 2021-01-11 00:00:00.0 - - - 231137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137 - Silver-Russell syndrome due to 7p11.2p13 microduplication - - Etiological subtype + + + 2302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2302 + Asbestos intoxication + + Disease - - Subtype of disorder + + Disorder - - - - HP:0000219 - Thin upper lip vermilion + + + + HP:0002086 + Abnormality of the respiratory system Frequent (79-30%) - - - HP:0000307 - Pointed chin + + + HP:0002091 + Restrictive ventilatory defect Frequent (79-30%) - - - HP:0000331 - Short chin + + + HP:0002094 + Dyspnea Frequent (79-30%) - - - HP:0000592 - Blue sclerae + + + HP:0002207 + Diffuse reticular or finely nodular infiltrations Frequent (79-30%) - - - HP:0001518 - Small for gestational age + + + HP:0002792 + Reduced vital capacity Frequent (79-30%) - - - HP:0002007 - Frontal bossing + + + HP:0002875 + Exertional dyspnea Frequent (79-30%) - - - HP:0002714 - Downturned corners of mouth + + + HP:0003546 + Exercise intolerance Frequent (79-30%) - - - HP:0002750 - Delayed skeletal maturation + + + HP:0006530 + Interstitial pulmonary abnormality Frequent (79-30%) - - - HP:0004209 - Clinodactyly of the 5th finger + + + HP:0030874 + Oxygen desaturation on exertion Frequent (79-30%) - - - HP:0004322 - Short stature + + + HP:0031246 + Nonproductive cough Frequent (79-30%) - - - HP:0004482 - Relative macrocephaly + + + HP:0031631 + Subpleural honeycombing Frequent (79-30%) - - - HP:0008897 - Postnatal growth retardation + + + HP:0031944 + Pleural thickening Frequent (79-30%) - - - HP:0000066 - Labial hypoplasia + + + HP:0031998 + Late inspiratory crackles - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0000322 - Short philtrum + + + HP:0032341 + Reduced forced vital capacity - - Occasional (29-5%) + + Frequent (79-30%) - - - HP:0000324 - Facial asymmetry + + + HP:0045051 + Decreased DLCO + + + Frequent (79-30%) + + + + + + HP:0000961 + Cyanosis + + + Occasional (29-5%) + + + + + + HP:0001648 + Cor pulmonale + + + Occasional (29-5%) + + + + + + HP:0001708 + Right ventricular failure + + + Occasional (29-5%) + + + + + + HP:0002206 + Pulmonary fibrosis + + + Occasional (29-5%) + + + + + + HP:0002878 + Respiratory failure + + + Occasional (29-5%) + + + + + + HP:0012418 + Hypoxemia + + + Occasional (29-5%) + + + + + + HP:0025179 + Ground-glass opacification on pulmonary HRCT + + + Occasional (29-5%) + + + + + + HP:0030828 + Wheezing + + + Occasional (29-5%) + + + + + + HP:0030849 + Hepatojugular reflux + + + Occasional (29-5%) + + + + + + HP:0030879 + Interlobular septal thickening on pulmonary HRCT + + + Occasional (29-5%) + + + + + + HP:0031352 + Chest tightness + + + Occasional (29-5%) + + + + + + HP:0032016 + Abnormal sputum + + + Occasional (29-5%) + + + + + + HP:0100749 + Chest pain + + + Occasional (29-5%) + + + + + + HP:0100759 + Clubbing of fingers + + + Occasional (29-5%) + + + + + + HP:0000969 + Edema + + + Very rare (<4-1%) + + + + + + HP:0001685 + Myocardial fibrosis + + + Very rare (<4-1%) + + + + + + HP:0030078 + Lung adenocarcinoma + + + Very rare (<4-1%) + + + + + + HP:0100001 + Malignant mesothelioma + + + Very rare (<4-1%) + + + + + + HP:0100721 + Mediastinal lymphadenopathy + + + Very rare (<4-1%) + + + + + + HP:0100750 + Atelectasis + + + Very rare (<4-1%) + + + + + + 9012357[PMID]_21281828[PMID]_30753424[PMID] + y + y + 2020-12-04 00:00:00.0 + + + + 1708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1708 + Mosaic trisomy 16 + + Malformation syndrome + + + Disorder + + + + + HP:0001511 + Intrauterine growth retardation + + + Very frequent (99-80%) + + + + + + HP:0001518 + Small for gestational age + + + Frequent (79-30%) + + + + + + HP:0001622 + Premature birth + + + Frequent (79-30%) + + + + + + HP:0001627 + Abnormal heart morphology + + + Frequent (79-30%) + + + + + + HP:0100602 + Preeclampsia + + + Frequent (79-30%) + + + + + + HP:0000047 + Hypospadias + + + Occasional (29-5%) + + + + + + HP:0000085 + Horseshoe kidney + + + Occasional (29-5%) + + + + + + HP:0000119 + Abnormality of the genitourinary system + + + Occasional (29-5%) + + + + + + HP:0000750 + Delayed speech and language development + + + Occasional (29-5%) + + + + + + HP:0000765 + Abnormality of the thorax + + + Occasional (29-5%) + + + + + + HP:0001159 + Syndactyly + + + Occasional (29-5%) + + + + + + HP:0001195 + Single umbilical artery + + + Occasional (29-5%) + + + + + + HP:0001263 + Global developmental delay + + + Occasional (29-5%) + + + + + + HP:0001629 + Ventricular septal defect + + + Occasional (29-5%) + + + + + + HP:0001631 + Atrial septal defect + + + Occasional (29-5%) + + + + + + HP:0001643 + Patent ductus arteriosus + + + Occasional (29-5%) + + + + + + HP:0002011 + Morphological abnormality of the central nervous system + + + Occasional (29-5%) + + + + + + HP:0002089 + Pulmonary hypoplasia + + + Occasional (29-5%) + + + + + + HP:0004484 + Craniofacial asymmetry + + + Occasional (29-5%) + + + + + + HP:0006267 + Large placenta + + + Occasional (29-5%) + + + + + + HP:0009800 + Maternal diabetes + + + Occasional (29-5%) + + + + + + HP:0011024 + Abnormality of the gastrointestinal tract + + + Occasional (29-5%) + + + + + + HP:0011471 + Gastrostomy tube feeding in infancy + + + Occasional (29-5%) + + + + + + HP:0030084 + Clinodactyly + + + Occasional (29-5%) + + + + + + HP:0100555 + Asymmetric growth + + + Occasional (29-5%) + + + + + + HP:0000154 + Wide mouth + + + Very rare (<4-1%) + + + + + + HP:0000365 + Hearing impairment + + + Very rare (<4-1%) + + + + + + HP:0000366 + Abnormality of the nose + + + Very rare (<4-1%) + + + + + + HP:0000954 + Single transverse palmar crease + + + Very rare (<4-1%) + + + + + + HP:0001250 + Seizures + + + Very rare (<4-1%) + + + + + + HP:0001545 + Anteriorly placed anus + + + Very rare (<4-1%) + + + + + + HP:0001680 + Coarctation of aorta + + + Very rare (<4-1%) + + + + + + HP:0002088 + Abnormal lung morphology + + + Very rare (<4-1%) + + + + + + HP:0002245 + Meckel diverticulum + + + Very rare (<4-1%) + + + + + + HP:0003319 + Abnormality of the cervical spine + + + Very rare (<4-1%) + + + + + + HP:0005587 + Profuse pigmented skin lesions + + + Very rare (<4-1%) + + + + + + HP:0005773 + Short forearm + + + Very rare (<4-1%) + + + + + + HP:0009778 + Short thumb + + + Very rare (<4-1%) + + + + + + HP:0011470 + Nasogastric tube feeding in infancy + + + Very rare (<4-1%) + + + + + + HP:0011640 + Single coronary artery origin + + + Very rare (<4-1%) + + + + + + HP:0012372 + Abnormal eye morphology + + + Very rare (<4-1%) + + + + + + HP:0031703 + Abnormal ear morphology + + + Very rare (<4-1%) + + + + + + HP:0100864 + Short femoral neck + + + Very rare (<4-1%) + + + + + + 12624135[PLMID]_28383546[PMID]_9880211[PMID] + y + y + 2020-12-04 00:00:00.0 + + + + 801 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=801 + Scleroderma + + Clinical group + + + Group of disorders + + + + + HP:0001072 + Thickened skin + + + Very frequent (99-80%) + + + + + + HP:0002829 + Arthralgia + + + Very frequent (99-80%) + + + + + + HP:0002960 + Autoimmunity + + + Very frequent (99-80%) + + + + + + HP:0003326 + Myalgia + + + Very frequent (99-80%) + + + + + + HP:0003493 + Antinuclear antibody positivity + + + Very frequent (99-80%) + + + + + + HP:0030880 + Raynaud phenomenon + + + Very frequent (99-80%) + + + + + + HP:0031359 + Cutaneous sclerotic plaque + + + Very frequent (99-80%) + + + + + + HP:0000160 + Narrow mouth + + + Frequent (79-30%) + + + + + + HP:0000716 + Depressivity + + + Frequent (79-30%) + + + + + + HP:0001324 + Muscle weakness + + + Frequent (79-30%) + + + + + + HP:0003198 + Myopathy + + + Frequent (79-30%) + + + + + + HP:0003236 + Elevated serum creatine kinase + + + Frequent (79-30%) + + + + + + HP:0011838 + Sclerodactyly + + + Frequent (79-30%) + + + + + + HP:0012531 + Pain + + + Frequent (79-30%) + + + + + + HP:0025131 + Finger swelling + + + Frequent (79-30%) + + + + + + HP:0030859 + Topoisomerase I antibody positivity + + + Frequent (79-30%) + + + + + + HP:0000491 + Keratitis + + + Occasional (29-5%) + + + + + + HP:0000554 + Uveitis + + + Occasional (29-5%) + + + + + + HP:0000739 + Anxiety + + + Occasional (29-5%) + + + + + + HP:0000966 + Hypohidrosis + + + Occasional (29-5%) + + + + + + HP:0000989 + Pruritus + + + Occasional (29-5%) + + + + + + HP:0001250 + Seizures + + + Occasional (29-5%) + + + + + + HP:0001279 + Syncope + + + Occasional (29-5%) + + + + + + HP:0001297 + Stroke + + + Occasional (29-5%) + + + + + + HP:0001369 + Arthritis + + + Occasional (29-5%) + + + + + + HP:0001371 + Flexion contracture + + + Occasional (29-5%) + + + + + + HP:0001596 + Alopecia + + + Occasional (29-5%) + + + + + + HP:0001701 + Pericarditis + + + Occasional (29-5%) + + + + + + HP:0001708 + Right ventricular failure + + + Occasional (29-5%) + + + + + + HP:0001919 + Acute kidney injury + + + Occasional (29-5%) + + + + + + HP:0002020 + Gastroesophageal reflux + + + Occasional (29-5%) + + + + + + HP:0002092 + Pulmonary arterial hypertension + + + Occasional (29-5%) + + + + + + HP:0002094 + Dyspnea + + + Occasional (29-5%) + + + + + + HP:0002206 + Pulmonary fibrosis + + + Occasional (29-5%) + + + + + + HP:0002244 + Abnormality of the small intestine + + + Occasional (29-5%) + + + + + + HP:0002250 + Abnormal large intestine morphology + + + Occasional (29-5%) + + + + + + HP:0002315 + Headache + + + Occasional (29-5%) + + + + + + HP:0002577 + Abnormality of the stomach + + + Occasional (29-5%) + + + + + + HP:0002584 + Intestinal bleeding + + + Occasional (29-5%) + + + + + + HP:0002604 + Gastrointestinal telangiectasia + + + Occasional (29-5%) + + + + + + HP:0002754 + Osteomyelitis + + + Occasional (29-5%) + + + + + + HP:0005590 + Spotty hypopigmentation + + + Occasional (29-5%) + + + + + + HP:0006121 + Acral ulceration + + + Occasional (29-5%) + + + + + + HP:0006261 + Abnormal phalangeal joint morphology of the hand + + + Occasional (29-5%) + + + + + + HP:0006530 + Interstitial pulmonary abnormality + + + Occasional (29-5%) + + + + + + HP:0007141 + Sensorimotor neuropathy + + + Occasional (29-5%) + + + + + + HP:0007400 + Irregular hyperpigmentation + + + Occasional (29-5%) + + + + + + HP:0009771 + Osteolytic defects of the phalanges of the hand + + + Occasional (29-5%) + + + + + + HP:0011024 + Abnormality of the gastrointestinal tract + + + Occasional (29-5%) + + + + + + HP:0011799 + Abnormality of facial soft tissue + + + Occasional (29-5%) + + + + + + HP:0012622 + Chronic kidney disease + + + Occasional (29-5%) + + + + + + HP:0012819 + Myocarditis + + + Occasional (29-5%) + + + + + + HP:0025520 + Calcinosis cutis + + + Occasional (29-5%) + + + + + + HP:0030873 + Anticentromere antibody positivity + + + Occasional (29-5%) + + + + + + HP:0030890 + Hyperintensity of cerebral white matter on MRI + + + Occasional (29-5%) + + + + + + HP:0031293 + Digital pitting scar + + + Occasional (29-5%) + + + + + + HP:0031329 + Interstitial cardiac fibrosis + + + Occasional (29-5%) + + + + + + HP:0100534 + Episcleritis + + + Occasional (29-5%) + + + + + + HP:0100543 + Cognitive impairment + + + Occasional (29-5%) + + + + + + HP:0100580 + Barrett esophagus + + + Occasional (29-5%) + + + + + + HP:0100661 + Trigeminal neuralgia + + + Occasional (29-5%) + + + + + + HP:0000763 + Sensory neuropathy + + + Very rare (<4-1%) + + + + + + HP:0002059 + Cerebral atrophy + + + Very rare (<4-1%) + + + + + + HP:0002176 + Spinal cord compression + + + Very rare (<4-1%) + + + + + + HP:0002326 + Transient ischemic attack + + + Very rare (<4-1%) + + + + + + HP:0007256 + Abnormal pyramidal sign + + + Very rare (<4-1%) + + + + + + HP:0010628 + Facial palsy + + + Very rare (<4-1%) + + + + + + HP:0012185 + Constrictive median neuropathy + + + Very rare (<4-1%) + + + + + + HP:0012486 + Myelitis + + + Very rare (<4-1%) + + + + + + HP:0025533 + Peau d'orange + + + Very rare (<4-1%) + + + + + + HP:0032018 + Multiple mononeuropathy + + + Very rare (<4-1%) + + + + + + HP:0032061 + Hypereosinophilia + + + Very rare (<4-1%) + + + + + + HP:0045054 + Brachial plexus neuropathy + + + Very rare (<4-1%) + + + + + + HP:0100537 + Fasciitis + + + Very rare (<4-1%) + + + + + + HP:0100758 + Gangrene + + + Very rare (<4-1%) + + + + + + 32147386[PMID]_ 23827688[PMID]_26577237[PMID]_28792092[PMID] + y + y + 2020-12-03 00:00:00.0 + + + + 3467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467 + Hereditary xanthinuria + + Disease + + + Disorder + + + + + HP:0003537 + Hypouricemia + + + Very frequent (99-80%) + + + + + + HP:0011935 + Decreased urinary urate + + + Very frequent (99-80%) + + + + + + HP:0000791 + Uric acid nephrolithiasis + + + Frequent (79-30%) + + + + + + HP:0000804 + Xanthine nephrolithiasis + + + Frequent (79-30%) + + + + + + HP:0002932 + Aldehyde oxidase deficiency + + + Frequent (79-30%) + + + + + + HP:0003534 + Reduced xanthine dehydrogenase activity + + + Frequent (79-30%) + + + + + + HP:0003643 + Sulfite oxidase deficiency + + + Frequent (79-30%) + + + + + + HP:0010933 + Hyperxanthinemia + + + Frequent (79-30%) + + + + + + HP:0010934 + Xanthinuria + + + Frequent (79-30%) + + + + + + HP:0011814 + Increased urinary hypoxanthine + + + Frequent (79-30%) + + + + + + HP:0020074 + Crystalluria + + + Frequent (79-30%) + + + + + + HP:0000010 + Recurrent urinary tract infections + + + Occasional (29-5%) + + + + + + HP:0000126 + Hydronephrosis + + + Occasional (29-5%) + + + + + + HP:0000790 + Hematuria + + + Occasional (29-5%) + + + + + + HP:0001370 + Rheumatoid arthritis + + + Occasional (29-5%) + + + + + + HP:0001919 + Acute kidney injury + + + Occasional (29-5%) + + + + + + HP:0003040 + Arthropathy + + + Occasional (29-5%) + + + + + + HP:0003198 + Myopathy + + + Occasional (29-5%) + + + + + + HP:0004396 + Poor appetite + + + Occasional (29-5%) + + + + + + HP:0012432 + Chronic fatigue + + + Occasional (29-5%) + + + + + + HP:0030157 + Flank pain + + + Occasional (29-5%) + + + + + + HP:0001997 + Gout + + + Very rare (<4-1%) + + + + + + 25370766[PMID]_29723117[PMID] + y + y + 2020-12-03 00:00:00.0 + + + + 2369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2369 + Limb body wall complex + + Malformation syndrome + + + Disorder + + + + + HP:0010866 + Abdominal wall defect + + + Very frequent (99-80%) + + + + + + HP:0011418 + Abnormal insertion of umbilical cord + + + Very frequent (99-80%) + + + + + + HP:0040064 + Abnormality of limbs + + + Very frequent (99-80%) + + + + + + HP:0000077 + Abnormality of the kidney + + + Frequent (79-30%) + + + + + + HP:0000765 + Abnormality of the thorax + + + Frequent (79-30%) + + + + + + HP:0000776 + Congenital diaphragmatic hernia + + + Frequent (79-30%) + + + + + + HP:0000925 + Abnormality of the vertebral column + + + Frequent (79-30%) + + + + + + HP:0001196 + Short umbilical cord + + + Frequent (79-30%) + + + + + + HP:0001627 + Abnormal heart morphology + + + Frequent (79-30%) + + + + + + HP:0001629 + Ventricular septal defect + + + Frequent (79-30%) + + + + + + HP:0001631 + Atrial septal defect + + + Frequent (79-30%) + + + + + + HP:0001683 + Ectopia cordis + + + Frequent (79-30%) + + + + + + HP:0002011 + Morphological abnormality of the central nervous system + + + Frequent (79-30%) + + + + + + HP:0005257 + Thoracic hypoplasia + + + Frequent (79-30%) + + + + + + HP:0006711 + Aplasia/Hypoplasia involving bones of the thorax + + + Frequent (79-30%) + + + + + + HP:0000175 + Cleft palate + + + Occasional (29-5%) + + + + + + HP:0000238 + Hydrocephalus + + + Occasional (29-5%) + + + + + + HP:0000316 + Hypertelorism + + + Occasional (29-5%) + + + + + + HP:0000431 + Wide nasal bridge + + + Occasional (29-5%) + + + + + + HP:0000453 + Choanal atresia + + + Occasional (29-5%) + + + + + + HP:0000612 + Iris coloboma + + + Occasional (29-5%) + + + + + + HP:0001132 + Lens subluxation + + + Occasional (29-5%) + + + + + + HP:0001195 + Single umbilical artery + + + Occasional (29-5%) + + + + + + HP:0001392 + Abnormality of the liver + + + Occasional (29-5%) + + + + + + HP:0001540 + Diastasis recti + + + Occasional (29-5%) + + + + + + HP:0001776 + Bilateral talipes equinovarus + + + Occasional (29-5%) + + + + + + HP:0001839 + Split foot + + + Occasional (29-5%) + + + + + + HP:0002084 + Encephalocele + + + Occasional (29-5%) + + + + + + HP:0002143 + Abnormality of the spinal cord + + + Occasional (29-5%) + + + + + + HP:0002242 + Abnormal intestine morphology + + + Occasional (29-5%) + + + + + + HP:0002323 + Anencephaly + + + Occasional (29-5%) + + + + + + HP:0002414 + Spina bifida + + + Occasional (29-5%) + + + + + + HP:0002475 + Myelomeningocele + + + Occasional (29-5%) + + + + + + HP:0002933 + Ventral hernia + + + Occasional (29-5%) + + + + + + HP:0003298 + Spina bifida occulta + + + Occasional (29-5%) + + + + + + HP:0004275 + Duplication of hand bones + + + Occasional (29-5%) + + + + + + HP:0005280 + Depressed nasal bridge + + + Occasional (29-5%) + + + + + + HP:0006368 + Forearm reduction defects + + + Occasional (29-5%) + + + + + + HP:0006496 + Aplasia/hypoplasia involving bones of the upper limbs + + + Occasional (29-5%) + + + + + + HP:0007385 + Aplasia cutis congenita of scalp + + + Occasional (29-5%) + + + + + + HP:0007957 + Corneal opacity + + + Occasional (29-5%) + + + + + + HP:0008458 + Progressive congenital scoliosis + + + Occasional (29-5%) + + + + + + HP:0009775 + Amniotic constriction ring + + + Occasional (29-5%) + + + + + + HP:0010055 + Broad hallux + + + Occasional (29-5%) + + + + + + HP:0010242 + Aplasia of the proximal phalanges of the hand + + + Occasional (29-5%) + + + + + + HP:0010541 + Cutis gyrata of scalp + + + Occasional (29-5%) + + + + + + HP:0010554 + Cutaneous finger syndactyly + + + Occasional (29-5%) + + + + + + HP:0100656 + Thoracoabdominal wall defect + + + Occasional (29-5%) + + + + + + HP:0410030 + Cleft lip + + + Occasional (29-5%) + + + + + + 24928524[PMID]_31556549[PMID]_28540190[PMID]_2962493[PMID]_26436108[PMID] + y + y + 2020-12-09 00:00:00.0 + + + + 2524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524 + Pontocerebellar hypoplasia type 2 + + Malformation syndrome + + + Disorder + + + + + HP:0001250 + Seizures + + + Very frequent (99-80%) + + + + + + HP:0001266 + Choreoathetosis + + + Very frequent (99-80%) + + + + + + HP:0001320 + Cerebellar vermis hypoplasia + + + Very frequent (99-80%) + + + + + + HP:0001321 + Cerebellar hypoplasia + + + Very frequent (99-80%) + + + + + + HP:0002123 + Generalized myoclonic seizures + + + Very frequent (99-80%) + + + + + + HP:0002360 + Sleep disturbance + + + Very frequent (99-80%) + + + + + + HP:0006850 + Hypoplasia of the ventral pons + + + Very frequent (99-80%) + + + + + + HP:0011344 + Severe global developmental delay + + + Very frequent (99-80%) + + + + + + HP:0011968 + Feeding difficulties + + + Very frequent (99-80%) + + + + + + HP:0031162 + Impaired oropharyngeal swallow response + + + Very frequent (99-80%) + + + + + + HP:0000253 + Progressive microcephaly + + + Frequent (79-30%) + + + + + + HP:0000340 + Sloping forehead + + + Frequent (79-30%) + + + + + + HP:0001270 + Motor delay + + + Frequent (79-30%) + + + + + + HP:0002020 + Gastroesophageal reflux + + + Frequent (79-30%) + + + + + + HP:0002033 + Poor suck + + + Frequent (79-30%) + + + + + + HP:0002104 + Apnea + + + Frequent (79-30%) + + + + + + HP:0002268 + Paroxysmal dystonia + + + Frequent (79-30%) + + + + + + HP:0002365 + Hypoplasia of the brainstem + + + Frequent (79-30%) + + + + + + HP:0002719 + Recurrent infections + + + Frequent (79-30%) + + + + + + HP:0007663 + Reduced visual acuity + + + Frequent (79-30%) + + + + + + HP:0012469 + Infantile spasms + + + Frequent (79-30%) + + + + + + HP:0200136 + Oral-pharyngeal dysphagia + + + Frequent (79-30%) + + + + + + HP:0001257 + Spasticity + + + Occasional (29-5%) + + + + + + HP:0002079 + Hypoplasia of the corpus callosum + + + Occasional (29-5%) + + + + + + HP:0002119 + Ventriculomegaly + + + Occasional (29-5%) + + + + + + HP:0002536 + Abnormal cortical gyration + + + Occasional (29-5%) + + + + + + HP:0003487 + Babinski sign + + + Occasional (29-5%) + + + + + + HP:0003558 + Viral infection-induced rhabdomyolysis + + + Occasional (29-5%) + + + + + + HP:0006895 + Lower limb hypertonia + + + Occasional (29-5%) + + + + + + HP:0006989 + Dysplastic corpus callosum + + + Occasional (29-5%) + + + + + + HP:0007598 + Bilateral single transverse palmar creases + + + Occasional (29-5%) + + + + + + HP:0009062 + Infantile axial hypotonia + + + Occasional (29-5%) + + + + + + HP:0011171 + Simple febrile seizures + + + Occasional (29-5%) + + + + + + HP:0011471 + Gastrostomy tube feeding in infancy + + + Occasional (29-5%) + + + + + + HP:0012765 + Widened cerebellar subarachnoid space + + + Occasional (29-5%) + + + + + + HP:0025190 + Generalized tonic-clonic seizures without focal onset + + + Occasional (29-5%) + + + + + + HP:0100704 + Cerebral visual impairment + + + Occasional (29-5%) + + + + + + HP:0200049 + Upper limb hypertonia + + + Occasional (29-5%) + + + + + + HP:0002350 + Cerebellar cyst + + + Very rare (<4-1%) + + + + + + HP:0001999 + Abnormal facial shape + + + Excluded (0%) + + + + + + 23562994[PMID]_20301773[PMID] + y + y + 2020-12-10 00:00:00.0 + + + + 90289 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90289 + Localized scleroderma + + Disease + + + Disorder + + + + + HP:0001072 + Thickened skin + + + Very frequent (99-80%) + + + + + + HP:0002829 + Arthralgia + + + Frequent (79-30%) + + + + + + HP:0011355 + Localized skin lesion + + + Frequent (79-30%) + + + + + + HP:0030053 + Stiff skin + + + Frequent (79-30%) + + + + + + HP:0031359 + Cutaneous sclerotic plaque + + + Frequent (79-30%) + + + + + + HP:0000164 + Abnormality of the dentition + + + Occasional (29-5%) + + + + + + HP:0000177 + Abnormality of upper lip + + + Occasional (29-5%) + + + + + + HP:0000324 + Facial asymmetry + + + Occasional (29-5%) + + + + + + HP:0000504 + Abnormality of vision + + + Occasional (29-5%) + + + + + + HP:0000554 + Uveitis + + + Occasional (29-5%) + + + + + + HP:0000689 + Dental malocclusion + + + Occasional (29-5%) + + + + + + HP:0000953 + Hyperpigmentation of the skin + + + Occasional (29-5%) + + + + + + HP:0001053 + Hypopigmented skin patches + + + Occasional (29-5%) + + + + + + HP:0001369 + Arthritis + + + Occasional (29-5%) + + + + + + HP:0001371 + Flexion contracture + + + Occasional (29-5%) + + + + + + HP:0002020 + Gastroesophageal reflux + + + Occasional (29-5%) + + + + + + HP:0002076 + Migraine + + + Occasional (29-5%) + + + + + + HP:0002232 + Patchy alopecia + + + Occasional (29-5%) + + + + + + HP:0002315 + Headache + + + Occasional (29-5%) + + + + + + HP:0002960 + Autoimmunity + + + Occasional (29-5%) + + + + + + HP:0003198 + Myopathy + + + Occasional (29-5%) + + + + + + HP:0004426 + Abnormality of the cheek + + + Occasional (29-5%) + + + + + + HP:0006336 + Short dental roots + + + Occasional (29-5%) + + + + + + HP:0009019 + Progressive loss of facial adipose tissue + + + Occasional (29-5%) + + + + + + HP:0010783 + Erythema + + + Occasional (29-5%) + + + + + + HP:0011331 + Hemifacial atrophy + + + Occasional (29-5%) + + + + + + HP:0011821 + Abnormality of facial skeleton + + + Occasional (29-5%) + + + + + + HP:0025474 + Erythematous plaque + + + Occasional (29-5%) + + + + + + HP:0100537 + Fasciitis + + + Occasional (29-5%) + + + + + + HP:0100560 + Upper limb asymmetry + + + Occasional (29-5%) + + + + + + HP:0100876 + Infra-orbital crease + + + Occasional (29-5%) + + + + + + HP:0100899 + Sclerosis of finger phalanx + + + Occasional (29-5%) + + + + + + HP:0000077 + Abnormality of the kidney + + + Very rare (<4-1%) + + + + + + HP:0000366 + Abnormality of the nose + + + Very rare (<4-1%) + + + + + + HP:0000490 + Deeply set eye + + + Very rare (<4-1%) + + + + + + HP:0000520 + Proptosis + + + Very rare (<4-1%) + + + + + + HP:0000707 + Abnormality of the nervous system + + + Very rare (<4-1%) + + + + + + HP:0000872 + Hashimoto thyroiditis + + + Very rare (<4-1%) + + + + + + HP:0001045 + Vitiligo + + + Very rare (<4-1%) + + + + + + HP:0001250 + Seizures + + + Very rare (<4-1%) + + + + + + HP:0001297 + Stroke + + + Very rare (<4-1%) + + + + + + HP:0001626 + Abnormality of the cardiovascular system + + + Very rare (<4-1%) + + + + + + HP:0002086 + Abnormality of the respiratory system + + + Very rare (<4-1%) + + + + + + HP:0002384 + Focal impaired awareness seizure + + + Very rare (<4-1%) + + + + + + HP:0002633 + Vasculitis + + + Very rare (<4-1%) + + + + + + HP:0003202 + Skeletal muscle atrophy + + + Very rare (<4-1%) + + + + + + HP:0003330 + Abnormal bone structure + + + Very rare (<4-1%) + + + + + + HP:0008066 + Abnormal blistering of the skin + + + Very rare (<4-1%) + + + + + + HP:0011138 + Abnormality of skin adnexa morphology + + + Very rare (<4-1%) + + + + + + HP:0011675 + Arrhythmia + + + Very rare (<4-1%) + + + + + + HP:0030878 + Abnormality on pulmonary function testing + + + Very rare (<4-1%) + + + + + + HP:0030880 + Raynaud phenomenon + + + Very rare (<4-1%) + + + + + + HP:0100633 + Esophagitis + + + Very rare (<4-1%) + + + + + + HP:0200041 + Skin erosion + + + Very rare (<4-1%) + + + + + + 25672301[PMID]_29687475[PMID]_29875934[PMID]_28271552 + y + y + 2020-12-08 00:00:00.0 + + + + 1445 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1445 + Ring chromosome 21 syndrome + + Malformation syndrome + + + Disorder + + + + + HP:0001999 + Abnormal facial shape + + + Very frequent (99-80%) + + + + + + HP:0000141 + Amenorrhea + + + Frequent (79-30%) + + + + + + HP:0000252 + Microcephaly + + + Frequent (79-30%) + + + + + + HP:0000789 + Infertility + + + Frequent (79-30%) + + + + + + HP:0001249 + Intellectual disability + + + Frequent (79-30%) + + + + + + HP:0001250 + Seizures + + + Frequent (79-30%) + + + + + + HP:0002353 + EEG abnormality + + + Frequent (79-30%) + + + + + + HP:0025356 + Psychomotor retardation + + + Frequent (79-30%) + + + + + + HP:0000027 + Azoospermia + + + Occasional (29-5%) + + + + + + HP:0000750 + Delayed speech and language development + + + Occasional (29-5%) + + + + + + HP:0000765 + Abnormality of the thorax + + + Occasional (29-5%) + + + + + + HP:0000873 + Diabetes insipidus + + + Occasional (29-5%) + + + + + + HP:0000992 + Cutaneous photosensitivity + + + Occasional (29-5%) + + + + + + HP:0001159 + Syndactyly + + + Occasional (29-5%) + + + + + + HP:0001257 + Spasticity + + + Occasional (29-5%) + + + + + + HP:0001288 + Gait disturbance + + + Occasional (29-5%) + + + + + + HP:0001360 + Holoprosencephaly + + + Occasional (29-5%) + + + + + + HP:0001627 + Abnormal heart morphology + + + Occasional (29-5%) + + + + + + HP:0002123 + Generalized myoclonic seizures + + + Occasional (29-5%) + + + + + + HP:0002650 + Scoliosis + + + Occasional (29-5%) + + + + + + HP:0004283 + Narrow palm + + + Occasional (29-5%) + + + + + + HP:0004313 + Decreased antibody level in blood + + + Occasional (29-5%) + + + + + + HP:0004322 + Short stature + + + Occasional (29-5%) + + + + + + HP:0007565 + Multiple cafe-au-lait spots + + + Occasional (29-5%) + + + + + + HP:0008467 + Thoracic hemivertebrae + + + Occasional (29-5%) + + + + + + HP:0011171 + Simple febrile seizures + + + Occasional (29-5%) + + + + + + HP:0025190 + Generalized tonic-clonic seizures without focal onset + + + Occasional (29-5%) + + + + + + HP:0030039 + Fused thoracic vertebrae + + + Occasional (29-5%) + + + + + + HP:0030084 + Clinodactyly + + + Occasional (29-5%) + + + + + + HP:0200055 + Small hand + + + Occasional (29-5%) + + + + + + 21595005[PMID]_29492108[PMID] + y + y + 2020-12-08 00:00:00.0 + + + + 2843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2843 + Pentosuria + + Disease + + + Disorder + + + + + HP:0011021 + Abnormality of circulating enzyme level + + + Very frequent (99-80%) + + + + + + HP:0031979 + Abnormal urine carbohydrate level + + + Very frequent (99-80%) + + + + + + HP:0011013 + Abnormal circulating carbohydrate concentration + + + Frequent (79-30%) + + + + + + 18850300[PMID]_22042873[PMID] + y + y + 2020-12-11 00:00:00.0 + + + + 1578 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1578 + Pterin-4 alpha-carbinolamine dehydratase deficiency + + Clinical subtype + + + Subtype of disorder + + + + + HP:0004923 + Hyperphenylalaninemia + + + Very frequent (99-80%) + + + + + + HP:0040210 + Abnormal circulating biopterin concentration + + + Very frequent (99-80%) + + + + + + HP:0010553 + Oculogyric crisis + + + Frequent (79-30%) + + + + + + HP:0040206 + Abnormal circulating neopterin concentration + + + Frequent (79-30%) + + + + + + HP:0000737 + Irritability + + + Occasional (29-5%) + + + + + + HP:0001276 + Hypertonia + + + Occasional (29-5%) + + + + + + HP:0001337 + Tremor + + + Occasional (29-5%) + + + + + + HP:0002917 + Hypomagnesemia + + + Occasional (29-5%) + + + + + + HP:0008936 + Muscular hypotonia of the trunk + + + Occasional (29-5%) + + + + + + HP:0012758 + Neurodevelopmental delay + + + Occasional (29-5%) + + + + + + HP:0001300 + Parkinsonism + + + Very rare (<4-1%) + + + + + + HP:0004904 + Maturity-onset diabetes of the young + + + Very rare (<4-1%) + + + + + + HP:0100021 + Cerebral palsy + + + Very rare (<4-1%) + + + + + + 19234759[PMID]_32456656[PMID]_21867484[PMID] + y + y + 2020-12-11 00:00:00.0 + + + + 1724 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1724 + Mosaic trisomy 20 + + Malformation syndrome + + + Disorder + + + + + HP:0008947 + Infantile muscular hypotonia + + + Very frequent (99-80%) + + + + + + HP:0000278 + Retrognathia + + + Frequent (79-30%) + + + + + + HP:0002143 + Abnormality of the spinal cord + + + Frequent (79-30%) + + + + + + HP:0007483 + Depigmentation/hyperpigmentation of skin + + + Frequent (79-30%) + + + + + + HP:0007535 + Hypopigmented streaks + + + Frequent (79-30%) + + + + + + HP:0011342 + Mild global developmental delay + + + Frequent (79-30%) + + + + + + HP:0012450 + Chronic constipation + + + Frequent (79-30%) + + + + + + HP:0200021 + Down-sloping shoulders + + + Frequent (79-30%) + + + + + + HP:0000028 + Cryptorchidism + + + Occasional (29-5%) + + + + + + HP:0000077 + Abnormality of the kidney + + + Occasional (29-5%) + + + + + + HP:0000085 + Horseshoe kidney + + + Occasional (29-5%) + + + + + + HP:0000175 + Cleft palate + + + Occasional (29-5%) + + + + + + HP:0000347 + Micrognathia + + + Occasional (29-5%) + + + + + + HP:0000365 + Hearing impairment + + + Occasional (29-5%) + + + + + + HP:0000472 + Long neck + + + Occasional (29-5%) + + + + + + HP:0000486 + Strabismus + + + Occasional (29-5%) + + + + + + HP:0000582 + Upslanted palpebral fissure + + + Occasional (29-5%) + + + + + + HP:0000750 + Delayed speech and language development + + + Occasional (29-5%) + + + + + + HP:0000774 + Narrow chest + + + Occasional (29-5%) + + + + + + HP:0001260 + Dysarthria + + + Occasional (29-5%) + + + + + + HP:0001270 + Motor delay + + + Occasional (29-5%) + + + + + + HP:0001328 + Specific learning disability + + + Occasional (29-5%) + + + + + + HP:0001511 + Intrauterine growth retardation + + + Occasional (29-5%) + + + + + + HP:0001629 + Ventricular septal defect + + + Occasional (29-5%) + + + + + + HP:0001633 + Abnormal mitral valve morphology + + + Occasional (29-5%) +