omimdefinitions

| Mucolipidosis II alpha/beta, 252500 (3)
| ?Mental retardation, autosomal recessive 43, 615817 (3)
| Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
| Spinocerebellar ataxia 2, 183090 (3)
| * 601517 ATAXIN 2| ATXN2
| {Celiac disease, susceptibility to, 13} (2)
| Carotid intimal medial thickness (2)
| * 124050 D-AMINO ACID OXIDASE| DAO
| Neuropathy, distal hereditary motor, type IIA, 158590 (3)
| Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3)
| Transposition of the great arteries, dextro-looped 1, 608808 (3)
| Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
| Mevalonic aciduria, 610377 (3)
| Hyper-IgD syndrome, 260920 (3)
| Porokeratosis 3, disseminated superficial actinic, 175900 (3)
| ?Immunodeficiency 9, 612782 (3)
| ?Myopathy, tubular aggregate, 2, 615883 (3)
| {Patent ductus arteriosus, susceptibility to} (2)
| * 605093 SH2B ADAPTOR PROTEIN 3| SH2B3
| Thrombocythemia, somatic, 187950 (3)
| Erythrocytosis, somatic, 133100 (3)
| {Systemic lupus erythematosus, susceptibility to, 4} (2)
| Tyrosinemia, type III, 276710 (3)
| Hawkinsinuria, 140350 (3)
| * 601406 B-CELL CLL/LYMPHOMA 7A| BCL7A
| Myopathy with lactic acidosis, hereditary, 255125 (3)
| Phenylketonuria, 261600 (3)
| * 612349 PHENYLALANINE HYDROXYLASE| PAH
| Noonan syndrome 1, 163950 (3)
| LEOPARD syndrome 1, 151100 (3)
| * 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11| PTPN11
| Metachondromatosis, 156250 (3)
| * 611684 SQUAMOUS CELL CARCINOMA ANTIGEN RECOGNIZED BY T CELLS 3| SART3
| Stuttering, familial persistent 2 (2)
| Ulnar-mammary syndrome, 181450 (3)
| Holt-Oram syndrome, 142900 (3)
| Joubert syndrome 13, 614173 (3)
| Brachyolmia type 3, 113500 (3)
| Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3)
| Metatropic dysplasia, 156530 (3)
| Hereditary motor and sensory neuropathy, type IIc, 606071 (3)
| Scapuloperoneal spinal muscular atrophy, 181405 (3)
| [Sodium serum level QTL 1], 613508 (3)
| Parastremmatic dwarfism, 168400 (3)
| SED, Maroteaux type, 184095 (3)
| Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3)
| Digital arthropathy-brachydactyly, familial, 606835 (3)
| Porokeratosis 2, palmar, plantar, and disseminated (2)
| Blepharophimosis-ptosis-intellectual disability syndrome, 615057 (3)
| Alcohol sensitivity, acute, 610251 (3)
| {Hangover, susceptibility to}, 610251 (3)
| {Sublingual nitroglycerin, susceptibility to poor response to} (3)
| {Esophageal cancer, alcohol-related, susceptibility to} (3)
| MODY, type III, 600496 (3)
| * 142410 HNF1 HOMEOBOX A| HNF1A
| {Diabetes mellitus, insulin-dependent}, 222100 (3)
| Hepatic adenoma, somatic, 142330 (3)
| Renal cell carcinoma, 144700 (3)
| Diabetes mellitus, insulin-dependent, 20, 612520 (3)
| Diabetes mellitus, noninsulin-dependent, 2 (2)
| * 164350 2-PRIME,5-PRIME-@OLIGOADENYLATE SYNTHETASE 1| OAS1
| {Diabetes mellitus, type 1, susceptibility to}, 222100 (3)
| Cataract 37, autosomal dominant (2)
| Cutis laxa, autosomal recessive, type IIA, 219200 (3)
| Wrinkly skin syndrome, 278250 (3)
| {Colorectal cancer, susceptibility to, 12}, 615083 (3)
| FILS syndrome, 615139 (3)
| Combined oxidative phosphorylation deficiency 7, 613559 (3)
| Spastic paraplegia 55, autosomal recessive, 615035 (3)
| Deafness, autosomal dominant 64, 614152 (3)
| [Mean platelet volume QTL1] (2)
| [High density lipoprotien cholesterol level QTL6], 610762 (3)
| Meckel syndrome 8, 613885 (3)
| Deafness, autosomal dominant 41, 608224 (3)
| Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)
| * 606686 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 1| EIF2B1
| Sulfite oxidase deficiency, 272300 (3)
| Corneal dystrophy, Fuchs endothelial, 2 (2)
| [Cholesterol level QTL 1] (2)
| Cataract 14, multiple types, 601885 (3)
| Multiple synostoses syndrome 3, 612961 (3)
| * 121011 GAP JUNCTION PROTEIN, BETA-2| GJB2
| Deafness, autosomal dominant 3A, 601544 (3)
| Vohwinkel syndrome, 124500 (3)
| Keratoderma, palmoplantar, with deafness, 148350 (3)
| Keratitis-ichthyosis-deafness syndrome, 148210 (3)
| Hystrix-like ichthyosis with deafness, 602540 (3)
| Bart-Pumphrey syndrome, 149200 (3)
| * 603700 ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN| ALOX5AP
| ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3)
| * 136351 FMS-RELATED TYROSINE KINASE 3| FLT3
| Leukemia, acute myeloid, 601626 (3)
| Leukemia, acute lymphoblastic, somatic, 613065 (3)
| Deafness, autosomal dominant 3B, 612643 (3)
| Deafness, autosomal recessive 1B, 612645 (3)
| * 604418 GAP JUNCTION PROTEIN, BETA-6| GJB6
| Ectodermal dysplasia 2, Clouston type, 129500 (3)
| {Coronary artery disease, susceptibility to} (3)
| Tumoral calcinosis, hyperphosphatemic, 211900 (3)
| {Myocardial infarction, susceptibility to, 2} (2)

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