Disorders: A

Disorders Alternate Names Genes Inheritance Pattern
Abetalipoproteinemia ABL, acanthocytosis, apolipoprotein B deficiency, Bassen-Kornzweig syndrome, MTP deficiency MTP autosomal recessive
Ablepharon-Macrostomia Syndrome AMS, microblepharon-macrostomia syndrome TWIST2 autosomal recessive
Acrofacial Dysostosis, Cincinnati Type AFDCIN POLR1A autosomal dominant
Adenomatous Polyposis of the Colon APC, familial adenomatous polyposis 1, familial polyposis of the colon, FAP1, FPC, Gardner syndrome, GS APC autosomal dominant
Adrenoleukodystrophy, Autosomal NALD, neonatal adrenoleukodystrophy, Perioxismal biogenesis disorder - Zellweger spectrum disorder PEX1, PEX13, PEX26, PEX5, PTS1 autosomal recessive
Adrenoleukodystrophy, X-Linked Addison disease and cerebral sclerosis, adrenomyeloneuropathy, ALD, AMN, Bronze Schilder disease, melanodermic leukodystrophy, Siemerling-Creutzfeldt disease ABCD1 X-linked recessive
Aicardi Syndrome AIC Xp22 locus X-linked dominant
Alagille Syndrome AHD, Alagille-Watson syndrome, ALGS, arteriohepatic dysplasia, AWS, cholestasis with peripheral pulmonary stenosis JAG1, NOTCH2 autosomal dominant
Aland Island Eye Disease AIED, Forsius-Eriksson type ocular albinism CACNA1F X-linked recessive
Albinism, Ocular Type 1 Nettleship-Falls ocular albinism, OA1 GPR143 X-linked recessive
Albinism, Oculocutaneous, Type I albinism, albinism I, OCA1A, OCA1B, oculocutaneous albinism, yellow mutant albinism TYR autosomal recessive
Albinism, Oculocutaneous, Type II albinism II, BOCA, brown oculocutaneous albinism, oculocutaneous albinism type II OCA2 autosomal recessive
Albinism, Oculocutaneous, Type III albinism III, BOCA, brown oculocutaneous albinism, OCA3, ROCA, rufous oculocutaneous albinism, xanthism TYRP1 autosomal recessive
Albinism, Oculocutaneous, Type IV OCA4, type IV oculocutaneous albinism SLC45A2 autosomal recessive
Albinism, Oculocutaneous, Type V OCA5 ? autosomal recessive
Albinism, Oculocutaneous, Type VI OCA6 SLC24A5 autosomal recessive
Albinism, Oculocutaneous, Type VII OCA7 C10ORF11 autosomal recessive
Alkaptonuria AKU, homogentisic acid oxidase deficiency HGD autosomal recessive
Alport Syndrome (Collagen IV-Related Nephropathies) ATS, nephropathy and deafness COL4A3, COL4A4, COL4A5 autosomal dominant, autosomal recessive, X-linked recessive
Alström Syndrome ALMS, ALSS ALMS1 autosomal recessive
Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps HANAC COL4A1 autosomal dominant
Aniridia 1 AN PAX6 autosomal dominant
Aniridia 2 AN2 ELP4 autosomal dominant
Aniridia 3 AN3 TRIM444 autosomal dominant
Anterior Segment Dysgenesis 6 ASGD6 CYP1B1 autosomal recessive
Anterior Segment Dysgenesis 8 ASGD8 CPAMD8 autosomal recessive
Anterior Segment Mesenchymal Dysgenesis ASMD, ASOD FOXE3, PITX3 autosomal dominant
Anterior Segment, Brain, and Facial Anomalies CAASDS, craniofacial anomalies and anterior segment dysgenesis syndrome VSX1 autosomal dominant?
Apert Syndrome acrocephalosyndactyly type I, ACS II, ACS1, Vogt cephalodactyly FGFR2 autosomal dominant
Aphakia, Congenital Primary FOXE3 autosomal recessive
Arthrogryposis, Perthes Disease, and Upward Gaze Palsy APUG NEK9 autosomal recessive
Asphyxiating Thoracic Dysplasia 1 ATD, Jeune syndrome, thoracic-pelvic-phalangeal dystrophy ATD1 autosomal recessive?
Ataxia and Polyneuropathy, Adult-Onset MTATPA6 mitochondrial
Ataxia with Oculomotor Apraxia 1 adult-onset ataxia with oculomotor apraxia, AOA1, ataxia-oculomotor apraxia syndrome, EAOH, early-onset ataxia with oculomotor apraxia and hypoalbuminemia APTX autosomal recessive
Ataxia with Oculomotor Apraxia 2 AOA2, ataxia-ocular apraxia 2, ataxia-oculomotor apraxia 2, autosomal recessive spinocerebellar ataxia 1, SCAR1 SETX autosomal recessive
Ataxia with Oculomotor Apraxia 4 AOA4 PNKP autosomal dominant
Ataxia-Telangiectasia AT1, Louis-Bar syndrome ATM autosomal recessive
Axenfeld-Rieger Anomaly, Plus De Hauwere syndrome ? autosomal dominant?
Axenfeld-Rieger Syndrome, Type 1 anterior chamber cleavage syndrome, RGS, RIEG1, Rieger anomaly, Rieger syndrome type 1 PITX2 autosomal dominant
Axenfeld-Rieger Syndrome, Type 2 RIEG2, Rieger syndrome, type 2 13q14 locus autosomal dominant
Axenfeld-Rieger Syndrome, Type 3 Axenfeld anomaly, RIEG3, Rieger anomaly, Rieger syndrome type 3 FOXC1 autosomal dominant
Axenfeld-Rieger Syndrome, Type 4 RIEG4 PRDM5 autosomal dominant