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Clinical Disorder Search

Terms: night blindness, jaundice, cataracts, etc.
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Disorder Name Genes Alternate Names OMIM Inheritance
3-methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neurtropenia CLPB MEGCANN, MGCA7, 3-methylglutaconic aciduria type VII 6116271 autosomal recessive
3MC Syndromes MASPI, COLEC11, COLEC10, MASP1 3MC, facial clefting syndrome Gypsy type, Malpuech facial clefting syndrome 248340, 257920, 265050 autosomal recessive
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Disorder Name Genes Alternate Names OMIM Inheritance
Abetalipoproteinemia MTP ABL, acanthocytosis, Bassen-Kornzweig syndrome, apolipoprotein B deficiency, MTP deficiency 200100 autosomal recessive
Ablepharon-Macrostomia Syndrome TWIST2 AMS, microblepharon-macrostomia syndrome 200110 autosomal recessive
Acrofacial Dysostosis, Cincinnati Type POLR1A AFDCIN 616462 autosomal dominant
Adenomatous Polyposis of the Colon APC familial adenomatous polyposis 1, FAP1, familial polyposis of the colon, FPC, Gardner syndrome, GS, APC 175100 autosomal dominant
Adrenoleukodystrophy, Autosomal PEX1, PTS1, PEX13, PEX26, PEX5 NALD, neonatal adrenoleukodystrophy, Perioxismal biogenesis disorder - Zellweger spectrum disorder 202370 autosomal recessive
Adrenoleukodystrophy, X-Linked ABCD1 ALD, Addison disease and cerebral sclerosis, adrenomyeloneuropathy, AMN, melanodermic leukodystrophy, Bronze Schilder disease, Siemerling-Creutzfeldt disease 300100 X-linked recessive
Aicardi Syndrome Xp22 locus AIC 304050 X-linked dominant
Al Kaissi Syndrome CDK10 ALKAS 617694 autosomal recessive
Alagille Syndrome JAG1, NOTCH2 ALGS, Alagille-Watson syndrome, AWS, cholestasis with peripheral pulmonary stenosis, arteriohepatic dysplasia, AHD 118450 autosomal dominant
Aland Island Eye Disease CACNA1F AIED, Forsius-Eriksson type ocular albinism 300600 X-linked recessive
Albinism, Ocular Type 1 GPR143, TBL1X, SHROOM2 Nettleship-Falls ocular albinism, OA1 300500, 300650 X-linked recessive
Albinism, Oculocutaneous, Type I TYR albinism, OCA1A, OCA1B, yellow mutant albinism, oculocutaneous albinism, albinism I 203100, 606952 autosomal recessive
Albinism, Oculocutaneous, Type II OCA2 oculocutaneous albinism type II, albinism II, brown oculocutaneous albinism, BOCA 203200 autosomal recessive
Albinism, Oculocutaneous, Type III TYRP1 brown oculocutaneous albinism, BOCA, rufous oculocutaneous albinism, ROCA, xanthism, albinism III, OCA3 203290 autosomal recessive
Albinism, Oculocutaneous, Type IV SLC45A2 type IV oculocutaneous albinism, OCA4 606574 autosomal recessive
Albinism, Oculocutaneous, Type V ? OCA5 615312 autosomal recessive
Albinism, Oculocutaneous, Type VI SLC24A5 OCA6 113750 autosomal recessive
Albinism, Oculocutaneous, Type VII C10ORF11 OCA7 615179 autosomal recessive
Alkaptonuria HGD AKU, homogentisic acid oxidase deficiency 203500 autosomal recessive
Alport Syndrome (Collagen IV-Related Nephropathies) COL4A5, COL4A4, COL4A3 ATS, nephropathy and deafness 301050 autosomal recessive, autosomal dominant, X-linked recessive
Alström Syndrome ALMS1 ALSS, ALMS 203800 autosomal recessive
Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps COL4A1 HANAC 611773 autosomal dominant
Aniridia 1 PAX6 AN1 106210, 206700, 194072, 106220, 206750, 106230, 612469 autosomal dominant
Aniridia 2 ELP4 AN2 617141 autosomal dominant
Aniridia 3 TRIM44 AN3 617142 autosomal dominant
Anterior Segment Dysgenesis 6 CYP1B1 ASGD6 617315 autosomal recessive
Anterior Segment Dysgenesis 8 CPAMD8 ASGD8 617319 autosomal recessive
Anterior Segment Mesenchymal Dysgenesis PITX3, FOXE3 ASMD, ASOD, anterior segment dysgenesis 1 107250 autosomal dominant
Anterior Segment, Brain, and Facial Anomalies VSX1 CAASDS, craniofacial anomalies and anterior segment dysgenesis syndrome 614195 autosomal dominant?
Apert Syndrome FGFR2 acrocephalosyndactyly type I, ACS II, Vogt cephalodactyly, ACS1 101200 autosomal dominant
Aphakia, Congenital Primary FOXE3 610256 autosomal recessive
Arthrogryposis, Perthes Disease, and Upward Gaze Palsy NEK9 APUG 614262 autosomal recessive
Asphyxiating Thoracic Dysplasia 1 ATD1 ATD, Jeune syndrome, thoracic-pelvic-phalangeal dystrophy 208500 autosomal recessive?
Ataxia and Polyneuropathy, Adult-Onset MT-ATP6 500010 mitochondrial
Ataxia with Oculomotor Apraxia 1 APTX EAOH, early-onset ataxia with oculomotor apraxia and hypoalbuminemia, adult-onset ataxia with oculomotor apraxia, ataxia-oculomotor apraxia syndrome, AOA1 208920 autosomal recessive
Ataxia with Oculomotor Apraxia 2 SETX autosomal recessive spinocerebellar ataxia 1, SCAR1, ataxia-oculomotor apraxia 2, AOA2, ataxia-ocular apraxia 2 602600 autosomal recessive
Ataxia with Oculomotor Apraxia 3 PIK3R5 AOA3 615217 autosomal recessive
Ataxia with Oculomotor Apraxia 4 PNKP AOA4 616267 autosomal dominant
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