omimdefinitions

| {Osteoporosis}, 166710 (2)
| {Colorectal cancer, susceptibility to, 11} (2)
| {Menopause, natural, age at, QTL3} (2)
| * 612360 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 5| NDUFAF5
| Cataract 33, 611391 (3)
| * 112261 BONE MORPHOGENETIC PROTEIN 2| BMP2
| Brachydactyly, type A2, 112600 (3)
| Glaucoma 1K, primary open angle, juvenile-onset (2)
| Alagille syndrome, 118450 (3)
| Tetralogy of Fallot, 187500 (3)
| Deafness, congenital heart defects, and posterior embryotoxon (3)
| McKusick-Kaufman syndrome, 236700 (3)
| * 604896 MKKS GENE| MKKS
| Epileptic encephalopathy, early infantile, 12, 613722 (3)
| Auriculocondylar syndrome 2, 614669 (3)
| {Systemic lupus erythematosus, susceptibility to, 7} (2)
| Retinitis pigmentosa 69, 615780 (3)
| Mitochondrial DNA depletion syndrome 11, 615084 (3)
| Alopecia, androgenetic, 3 (2)
| Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
| Cerebral amyloid angiopathy, 105150 (3)
| Macular degeneration, age-related, 11, 611953 (3)
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)
| ?Otofaciocervical syndrome 2, 615560 (3)
| Dyserythropoietic anemia, congenital, type II, 224100 (3)
| Thrombophilia due to thrombomodulin defect, 614486 (3)
| {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3)
| Keratoconus 1, 148300 (3)
| Corneal dystrophy, hereditary polymorphous posterior, 122000 (3)
| Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
| Corneal endothelial dystrophy 1, autosomal dominant (2)
| Dystonia-17, primary torsion (2)
| Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3)
| [Inosine triphosphatase deficiency], 613850 (3)
| Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3)
| Alzheimer disease 8, 104300 (2)
| {Dermatitis, atopic, susceptibility to, 3} (2)
| {Hypertension, essential, susceptibility to, 5}, 145500 (2)
| Spinocerebellar ataxia, autosomal recessive 6 (2)
| [Skin/hair/eye pigmentation 9, dark/light hair], 611742 (3)
| * 600201 AGOUTI SIGNALING PROTEIN| ASIP
| {Melanoma, cutaneous malignant, 7} (2)
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
| Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3)
| Brachydactyly, type C, 113100 (3)
| Chondrodysplasia, Grebe type, 200700 (3)
| Du Pan syndrome, 228900 (3)
| * 601146 GROWTH/DIFFERENTIATION FACTOR 5| GDF5
| Symphalangism, proximal, 1B, 615298 (3)
| Multiple synostoses syndrome 2, 610017 (3)
| {Osteoarthritis-5}, 612400 (3)
| Brachydactyly, type A1, C, 615072 (3)
| * 139190 GROWTH HORMONE-RELEASING HORMONE| GHRH
| Gigantism due to GHRF hypersecretion (1)
| Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3)
| Glutathione synthetase deficiency, 266130 (3)
| Aicardi-Goutieres syndrome 5, 612952 (3)
| Chilblain lupus 2, 614415 (3)
| Long QT syndrome 12, 612955 (3)
| ?Mental retardation, autosomal dominant 11, 614257 (3)
| Multicentric carpotarsal osteolysis syndrome, 166300 (3)
| Metaphyseal anadysplasia 2, 613073 (3)
| Microcephaly 10, primary, autosomal recessive, 615095 (3)
| Bohring-Opitz syndrome, 605039 (3)
| * 612990 ADDITIONAL SEX COMBS-LIKE 1| ASXL1
| Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3)
| Cataract 31, multiple types, 605387 (3)
| Dowling-Degos disease 2, 615327 (3)
| {Stature QTL 14} (2)
| Autoimmune disease, syndromic multisystem, 613385 (3)
| Cardiomyopathy, familial hypertrophic 17, 613873 (3)
| * 190090 V-SRC AVIAN SARCOMA (SCHMIDT-RUPPIN A-2) VIRAL ONCOGENE| SRC
| MODY, type I, 125850 (3)
| * 600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA| HNF4A
| {Diabetes mellitus, noninsulin-dependent}, 125853 (2)
| [High density lipoprotein cholesterol level QTL 9] (3)
| * 126420 TOPOISOMERASE, DNA, I| TOP1
| Parasomnia, sleepwalking type (2)
| Immunodeficiency with hyper-IgM, type 3, 606843 (3)
| {Gene expression, variation in, QTL} (2)
| {Prostate cancer, susceptibility to, 3}, 176807 (2)
| {Inflammatory bowel disease 24} (2)
| {Psoriasis susceptibility 12} (2)
| {Systemic lupus erythematosus, susceptibility to, 8} (2)
| Galactosialidosis, 256540 (3)
| Arterial tortuosity syndrome, 208050 (3)
| * 176885 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 1| PTPN1
| Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
| * 608958 ADENOSINE DEAMINASE| ADA
| {Graves disease, susceptibility to, 2} (2)
| * 601699 PROSTAGLANDIN I2 SYNTHASE| PTGIS
| ?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)
| ?Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3)
| Mental retardation, autosomal dominant, 28, 615873 (3)
| Periventricular heterotopia with microcephaly, 608097 (3)
| Congenital disorder of glycosylation, type Ie, 608799 (3)
| Duane-radial ray syndrome, 607323 (3)
| IVIC syndrome, 147750 (3)
| Pseudohypoparathyroidism Ia, 103580 (3)
| McCune-Albright syndrome, 174800 (3)

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