List of OMIM disorder codes

This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information.

Isolated 17,20-lyase deficiency; ; CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency; ; CYP17A1 17-beta-hydroxysteroid dehydrogenase X deficiency; ; HSD17B10 2-methylbutyrylglycinuria; ; ACADSB 3-hydroxyacyl-coa dehydrogenase deficiency; ; HADHSC 3-hydroxyisobutryl-CoA hydrolase deficiency; ; HIBCH 3-M syndrome; ; CUL7 3-Methylcrotonyl-CoA carboxylase 1 deficiency; ; MCCC1 3-Methylcrotonyl-CoA carboxylase 2 deficiency; ; MCCC2 3-Methylglutaconic aciduria type I; ; AUH 3-Methylglutaconic aciduria type III; ; OPA3 3-Methylglutaconic aciduria type V; ; DNAJC19 46XX true hermaphroditism; ; SRY 46XY complete gonadal dysgenesis; ; DHH 46XY complete gonadal dysgenesis; ; SRY 46XY gonadal dysgenesis, complete or partial, with or without adrenal failure; ; NR5A1 46XY gonadal dysgenesis, complete, CBS2-related; ; CBX2 46XY partial gonadal dysgenesis, with minifascicular neuropathy; ; DHH 5-fluorouracil toxicity; ; DPYD 6-mercaptopurine sensitivity; ; TPMT Aarskog–Scott syndrome; ; FGD1 ABCD syndrome; ; EDNRB Abetalipoproteinemia; ; MTP ACAD9 deficiency; ; ACAD9 Acampomelic campomelic dysplasia; ; SOX9 Achalasia-Addisonianism-Alacrimia syndrome; ; AAAS Acheiropody; ; LMBR1 Achondrogenesis Ib; ; SLC26A2 Achondrogenesis type 1A; ; TRIP11 Achondrogenesis-hypochondrogenesis type 2; ; COL2A1 Achondroplasia; ; FGFR3 Achromatopsia-2; ; CNGA3 Achromatopsia-3; ; CNGB3 Acrocallosal syndrome; ; GLI3 Acrocapitofemoral dysplasia; ; IHH Acrodermatitis enteropathica; ; SLC39A4 Acrokeratosis verruciformis; ; ATP2A2 Acromesomelic dysplasia, Hunter-Thompson type; ; GDF5 Acromesomelic dysplasia, Maroteaux type; ; NPR2 Action myoclonus-renal failure syndrome; ; SCARB2 Acyl-CoA dehydrogenase, long chain, deficiency of; ; ACADL Acyl-CoA dehydrogenase, medium chain, deficiency of; ; ACADM Acyl-CoA dehydrogenase, short chain, deficiency of; ; ACADS Adenocarcinoma of lung, response to tyrosine kinase inhibitor in; ; EGFR Adenocarcinoma of lung, somatic; ; BRAF Adenocarcinoma of lung, somatic; ; ERBB2 Adenocarcinoma of lung, somatic; ; PRKN Adenocarcinoma, ovarian, somatic; ; PRKN Adenomas, multiple colorectal; ; MUTYH Adenomas, salivary gland pleomorphic; ; PLAG1 Adenomatous polyposis coli; ; APC Adenosine deaminase deficiency, partial; ; ADA Adenosine triphosphate, elevated, of erythrocytes; ; PKLR Adenylosuccinase deficiency; ; ADSL Adiponectin deficiency; ; ADIPOQ Adrenal cortical carcinoma; ; TP53 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; ; CYP11B1 Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency; ; POR Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism; ; DAX1 Adrenocorticotropic hormone deficiency; ; TBS19 Adrenoleukodystrophy; ; ABCD1 Adrenoleukodystrophy, neonatal; ; PEX1 Adrenoleukodystrophy, neonatal; ; PEX10 Adrenoleukodystrophy, neonatal; ; PEX13 Adrenoleukodystrophy, neonatal; ; PEX26 Adrenoleukodystrophy, neonatal; ; PEX5 Adrenomyeloneuropathy; ; ABCD1 Adult i phenotype with congenital cataract; ; GCNT2 Adult i phenotype without cataract; ; GCNT2 ADULT syndrome; ; TP63 Advanced sleep phase syndrome, familial; ; PER2 Afibrinogenemia, congenital; ; FGA Afibrinogenemia, congenital; ; FGB Agammaglobulinemia 1; ; IGHM Agammaglobulinemia 2; ; IGLL1 Agammaglobulinemia 4; ; BLNK Agammaglobulinemia 5; ; LRRC8A Agammaglobulinemia and isolated hormone deficiency; ; BTK Agammaglobulinemia, type 1, X-linked; ; BTK AGAT deficiency; ; GATM Agenesis of the corpus callosum with peripheral neuropathy; ; SLC12A6 Aicardi–Goutières syndrome 1, dominant and recessive; ; TREX1 Aicardi–Goutières syndrome 2; ; RNASEH2B Aicardi–Goutières syndrome 3; ; RNASEH2C Aicardi–Goutières syndrome 4; ; RNASEH2A Aicardi–Goutières syndrome 5; ; SAMHD1 AICA-ribosiduria due to ATIC deficiency; ; ATIC Alagille syndrome 2; ; NOTCH2 Alagille syndrome; ; JAG1 Aland Island eye disease; ; CACNA1F Albinism, brown oculocutaneous; ; OCA2 Albinism, brown; ; TYRP1 Albinism, oculocutaneous, type IA; ; TYR Albinism, oculocutaneous, type IB; ; TYR Albinism, oculocutaneous, type II; ; OCA2 Albinism, rufous; ; TYRP1 Alcohol sensitivity, acute; ; ALDH2 Aldosteronism, glucocorticoid-remediable; ; CYP11B1 Alexander disease; ; GFAP Alexander disease; ; NDUFV1 Alkaptonuria; ; HGD Allan–Herndon–Dudley syndrome; ; SLC16A2 Alopecia universalis; ; HR Alopecia, neurologic defects, and endocrinopathy syndrome; ; RBM28 Alpers syndrome; ; POLG Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; ; RAG1 Alpha-2-plasmin inhibitor deficiency; ; PLI Alpha-ketoglutarate dehydrogenase deficiency; ; OGDH Alpha-methylacetoacetic aciduria; ; ACAT1 Alpha-thalassemia myelodysplasia syndrome, somatic; ; ATRX Alpha-thalassemia mental retardation syndrome; ; ATRX Alport syndrome; ; COL4A5 Alport syndrome, autosomal recessive; ; COL4A3 Alport syndrome, autosomal recessive; ; COL4A4 Alström syndrome; ; ALMS1 Alternating hemiplegia of childhood; ; ATP1A2 Alveolar capillary dysplasia with misalignment of pulmonary veins; ; FOXF1 Alveolar soft part sarcoma; ; ASPSCR1 Alzheimer disease 1, familial; ; APP Alzheimer disease 6; ; AD6 Alzheimer disease 8; ; AD8 Alzheimer disease, late-onset, susceptibility to; ; NOS3 Alzheimer disease, type 3; ; PSEN1 Alzheimer disease, type 3, with spastic paraparesis and apraxia; ; PSEN1 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; ; PSEN1 Alzheimer disease-10; ; AD10 Alzheimer disease-2; ; APOE Alzheimer disease-4; ; PSEN2 Alzheimer disease-5; ; AD5 Amelogenesis imperfecta, hypomaturation type, IIA3; ; WDR72 Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism; ; DLX3 Amelogenesis imperfecta, hypoplastic/hypomaturation type; ; AMELX Amelogenesis imperfecta, type 3; ; FAM83H Amelogenesis imperfecta, type IB; ; ENAM Amelogenesis imperfecta, type IC; ; ENAM Amelogenesis imperfecta, type IIA1; ; KLK4 Amelogenesis imperfecta, type IIA2; ; MMP20 Aminoacylase 1 deficiency; ; ACY1 Amish infantile epilepsy syndrome; ; SIAT9 Amyloidosis, 3 or more types; ; APOA1 Amyloidosis, Finnish type; ; GSN Amyloidosis, hereditary renal; ; FGA Amyloidosis, hereditary, transthyretin-related; ; TTR Amyloidosis, primary localized cutaneous; ; OSMR Amyloidosis, renal; ; LYZ Amyotrophic lateral sclerosis 10, with or without FTD; ; TARDBP Amyotrophic lateral sclerosis 11; ; FIG4 Amyotrophic lateral sclerosis 4, juvenile; ; SETX Amyotrophic lateral sclerosis 6, autosomal recessive; ; FUS Amyotrophic lateral sclerosis 8; ; VAPB Amyotrophic lateral sclerosis 9; ; ANG Amyotrophic lateral sclerosis, due to SOD1 deficiency; ; SOD1 Amyotrophic lateral sclerosis, juvenile; ; ALS2 Amyotrophy, hereditary neuralgic; ; 40430 Amytrophic lateral sclerosis 12; ; OPTN Anauxetic dysplasia; ; RMRP Androgen insensitivity syndrome; ; AR Androgen insensitivity, partial, with or without breast cancer; ; AR Anemia, congenital dyserythropoietic, type I; ; CDAN1 Anemia, dyserythropoietic congenital, type II; ; SEC23B Anemia, hemolytic, due to UMPH1 deficiency; ; NT5C3 Anemia, hemolytic, Rh-null, regulator type; ; RHAG Anemia, hypochromic microcytic; ; NRAMP2 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; ; GLRX5 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; ; SLC25A38 Anemia, sideroblastic, with ataxia; ; ABCB7 Anemia, sideroblastic, X-linked; ; ALAS2 Angelman syndrome; ; MECP2 Angelman syndrome; ; UBE3A Angelman syndrome-like; ; CDKL5 Angioedema, hereditary, type III; ; F12 Angioedema, hereditary, types I and II; ; C1NH Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; ; COL4A1 Aniridia; ; PAX6 Anonychia congenita; ; RSPO4 Anterior segment mesenchymal dysgenesis; ; FOXE3 Anterior segment mesenchymal dysgenesis; ; PITX3 Antithrombin III deficiency; ; AT3 Antley–Bixler syndrome; ; FGFR2 Antley–Bixler syndrome-like with disordered steroidogenesis; ; POR Anxiety-related personality traits; ; SLC6A4 Aortic aneurysm, familial thoracic 4; ; MYH11 Aortic aneurysm, familial thoracic 6; ; ACTA2 Aortic valve disease; ; NOTCH1 Apert syndrome; ; FGFR2 Aphakia, congenital primary; ; FOXE3 Aplasia of lacrimal and salivary glands; ; FGF10 Aplastic anemia; ; TERC Argininemia; ; ARG1 Argininosuccinic aciduria; ; ASL Aromatase deficiency; ; CYP19A1 Aromatase excess syndrome; ; CYP19A1 Aromatic L-amino acid decarboxylase deficiency; ; DDC Arrhythmogenic right ventricular dysplasia 1; ; TGFB3 Arrhythmogenic right ventricular dysplasia 2; ; RYR2 Arrhythmogenic right ventricular dysplasia 5; ; LAMR1 Arrhythmogenic right ventricular dysplasia 8; ; DSP Arrhythmogenic right ventricular dysplasia, familial, 10; ; DSG2 Arrhythmogenic right ventricular dysplasia, familial, 11; ; DSC2 Arrhythmogenic right ventricular dysplasia, familial, 12; ; JUP Arrhythmogenic right ventricular dysplasia, familial, 5; ; TMEM43 Arrhythmogenic right ventricular dysplasia, familial, 9; ; PKP2 Arterial calcification, generalized, of infancy; ; ENPP1 Arterial tortuosity syndrome; ; SLC2A10 Arthrogryposis multiplex congenita, distal type 1; ; TPM2 Arthrogryposis multiplex congenita, distal type 2B; ; TNNI2 Arthrogryposis, distal, type 2A; ; MYH3 Arthrogryposis, distal, type 2B; ; MYH3 Arthrogryposis, distal, type 2B; ; TPM2 Arthrogryposis, lethal, with anterior horn cell disease; ; GLE1 Arthrogryposis, renal dysfunction, and cholestasis 1; ; VPS33B Arthrogryposis, renal dysfunction, and cholestasis 2; ; VIPAR Arthropathy, progressive pseudorheumatoid, of childhood; ; WISP3 Arthyrgryposis, distal, type 2B; ; TNNT3 Arts syndrome; ; PRPS1 Aspartylglucosaminuria; ; AGA Asphyxiating thoracic dystrophy 2; ; IFT80 Asphyxiating thoracic dystrophy 3; ; DYNC2H1 Asthma and nasal polyps; ; TBX21 Ataxia with isolated vitamin E deficiency; ; TTPA Ataxia, cerebellar, Cayman type; ; ATCAY Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; ; APTX Ataxia–ocular apraxia-2; ; SETX Ataxia–telangiectasia; ; ATM Ataxia–telangiectasia-like disorder; ; MRE11A Atelosteogenesis II; ; SLC26A2 Atelosteogenesis, type III; ; FLNB Atelostogenesis, type I; ; FLNB Athabaskan brainstem dysgenesis syndrome; ; HOXA1 Atopy; ; SPINK5 ATP synthase deficiency, nuclear-encoded; ; ATPAF2 Atransferrinemia; ; TF Atrial fibrillation; ; GJA5 Atrial fibrillation, familial, 3; ; KCNQ1 Atrial fibrillation, familial, 4; ; KCNE2 Atrial fibrillation, familial, 6; ; NPPA Atrial fibrillation, familial, 7; ; KCNA5 Atrial septal defect 4; ; TBX20 Atrial septal defect 5; ; ACTC1 Atrial septal defect 6; ; TLL1 Atrial septal defect with atrioventricular conduction defects; ; NKX2E Atrial septal defect-2; ; GATA4 Atrichia with papular lesions; ; HR Atrioventricular canal defect; ; AVSD1 Atrioventricular septal defect; ; GJA1 Atrioventricular septal defect, partial, with heterotaxy syndrome; ; CRELD1 Auditory neuropathy, autosomal recessive, 1; ; OTOF Autoimmune disease, syndromic multisystem; ; ITCH Autoimmune lymphoproliferative syndrome, type IA; ; TNFRSF6 Autoimmune lymphoproliferative syndrome, type II; ; CASP10 Autoimmune lymphoproliferative syndrome, type IIB; ; CASP8 Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia; ; AIRE Axenfeld–Rieger syndrome, type 1; ; PITX2 Axenfeld–Rieger syndrome, type 3; ; FOXC1 Azoospermia due to perturbations of meiosis; ; SYCP3 Azoospermia; ; USP9Y Baller–Gerold syndrome; ; RECQL4 Bamforth–Lazarus syndrome; ; FOXE1