Clinical Disorder Search
Alphabetical List Grouped by Letter
| 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 |
| Ataxia-Telangiectasia | ATM | Louis-Bar syndrome, AT1 | 208900 | autosomal recessive |
| Autoinflammation with Arthritis and Dyskeratosis | NLRP1 | AIADK | 617388 | ? |