omimdefinitions

| Candidiasis, familial, 2, autosomal recessive, 212050 (3)
| Maturity-onset diabetes of the young, type VIII, 609812 (3)
| Kleefstra syndrome, 610253 (3)
| Mental retardation, autosomal dominant 8, 614254 (3)
| Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
| Joubert syndrome 1, 213300 (3)
| Epileptic encephalopathy, early infantile, 14, 614959 (3)
| Epilepsy, nocturnal frontal lobe, 5, 615005 (3)
| Pituitary hormone deficiency, combined, 3, 221750 (3)
| Mental retardation, autosomal recessive 15, 614202 (3)
| Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3)
| Aortic valve disease, 109730 (3)
| * 190198 NOTCH, DROSOPHILA, HOMOLOG OF, 1| NOTCH1
| Deafness, autosomal recessive 79, 613307 (3)
| Refsum disease, 266500 (3)
| Refsum disease, adult, with increased pipecolicacidemia (2)
| * 601188 SUPPRESSION OF TUMORIGENICITY 12| ST12
| Interleukin-2 receptor, alpha chain, deficiency of, 606367 (3)
| {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3)
| {Multiple sclerosis, susceptibility to, 2} (2)
| Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3)
| * 602053 KRUPPEL-LIKE FACTOR 6| KLF6
| Gastric cancer, somatic, 613659 (3)
| {Plasmodium falciparum fever episodes QTL1} (2)
| * 600450 ALDO-KETO REDUCTASE FAMILY 1, MEMBER C2| AKR1C2
| 46XY sex reversal 8, 614279 (3)
| * 600451 ALDO-KETO REDUCTASE FAMILY 1, MEMBER C4| AKR1C4
| Glaucoma 1, open angle, E, 137760 (3)
| * 602432 OPTINEURIN| OPTN
| Amyotrophic lateral sclerosis 12, 613435 (3)
| {Colorectal cancer, susceptibility to, 5} (2)
| 2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
| Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
| DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)
| Arrhythmogenic right ventricular dysplasia 6 (2)
| Alzheimer disease-7 (2)
| Renal hypodysplasia/aplasia 1, 191830 (3)
| {Leprosy, paucibacillary type, susceptibility to} (2)
| Cataract 30, pulverulent, 116300 (3)
| Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069 (3)
| Thrombocytopenia 2, 188000 (3)
| Ciliary dyskinesia, primary, 23, 615451 (3)
| Megaloblastic anemia-1, Finnish type, 261100 (3)
| * 608221 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE-LIKE| MASTL
| Coenzyme Q10 deficiency, primary, 2, 614651 (3)
| Warburg micro syndrome 3, 614222 (3)
| * 602409 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 10| MLLT10
| Leukemia, acute T-cell lymphoblastic (3)
| Brugada syndrome 4, 611876 (3)
| Ataxia, spastic, 4, 613672 (3)
| Deafness, autosomal recessive 33 (2)
| Epilepsy, idiopathic generalized, susceptibility to, 5 (2)
| Usher syndrome, type IK (2)
| * 191195 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 8| MAP3K8
| Corneal dystrophy, posterior polymorphous, 3, 609141 (3)
| Corneal dystrophy, Fuchs endothelial, 6, 613270 (3)
| Deafness, autosomal recessive 30, 607101 (3)
| {Bulimia nervosa, susceptibility to} (2)
| Severe combined immunodeficiency, Athabascan type, 602450 (3)
| Omenn syndrome, 603554 (3)
| {Obesity, susceptibility to, BMIQ8} (2)
| {Autoimmune thyroid disease, susceptibility to, 4} (2)
| {Obesity, susceptibility to, BMIQ10} (2)
| Cockayne syndrome, type B, 133540 (3)
| Cerebrooculofacioskeletal syndrome 1, 214150 (3)
| De Sanctis-Cacchione syndrome, 278800 (3)
| {Macular degeneration, age-related, susceptibility to 5}, 613761 (3)
| UV-sensitive syndrome 1, 600630 (3)
| * 609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6| ERCC6
| Hypermethioninemia due to adenosine kinase deficiency, 614300 (3)
| * 600835 CHEMOKINE, CXC MOTIF, LIGAND 12| CXCL12
| * 152390 ARACHIDONATE 5-LIPOXYGENASE| ALOX5
| {Asthma, diminished response to antileukotriene treatment in}, 600807 (3)
| Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)
| {Prostate cancer, hereditary, 13}, 611928 (3)
| * 601984 NUCLEAR RECEPTOR COACTIVATOR 4| NCOA4
| Aortic aneurysm, familial thoracic 8, 615436 (3)
| ?Retinitis pigmentosa 66, 615233 (3)
| Multiple endocrine neoplasia IIA, 171400 (3)
| Medullary thyroid carcinoma, 155240 (3)
| Multiple endocrine neoplasia IIB, 162300 (3)
| Central hypoventilation syndrome, congenital, 209880 (3)
| Pheochromocytoma, 171300 (3)
| Renal agenesis, 191830 (3)
| {Hirschsprung disease, susceptibility to, 1}, 142623 (3)
| {Chronic infections, due to MBL deficiency}, 614372 (3)
| Tooth agenesis, selective, 5 (2)
| Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3)
| Hypotrichosis 9 (2)
| {Leukemia, acute lymphocytic, susceptibility to, 1} (2)
| {Alkaline phosphatase, plasma level of, QTL4} (2)
| ?Mental retardation, autosomal recessive, 37, 615493 (3)
| * 601985 COILED-COIL DOMAIN-CONTAINING PROTEIN 6| CCDC6
| Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)
| {Inflammatory bowel disease 15} (2)
| {Major affective disorder-8, susceptibility to} (2)
| Retinal nonattachment, nonsyndromic congenital (2)
| Usher syndrome, type 1D, 601067 (3)
| * 605516 CADHERIN 23| CDH23
| Usher syndrome, type 1D/F digenic, 601067 (3)

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