omimdefinitions

| Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3)
| {Diabetes mellitus, insulin-dependent, 5}, 600320 (3)
| Congenital heart defects, nonsyndromic, 2, 614980 (3)
| ?Retinal cone dystrophy-1 (2)
| {Diabetes mellitus, insulin-dependent, 8} (2)
| Mental retardation, autosomal dominant 12, 614562 (3)
| Estrogen resistance, 615363 (3)
| {HDL response to hormone replacement, augmented} (3)
| {Migraine, susceptibility to}, 157300 (3)
| {Atherosclerosis, susceptibility to} (3)
| {Myocardial infarction, susceptibility to}, 608446 (3)
| {Breast cancer}, 114480 (1)
| Parkinson disease, juvenile, type 2, 600116 (3)
| * 602544 PARKIN| PARK2
| Adenocarcinoma, ovarian, somatic, 167000 (3)
| {Leprosy, susceptibility to}, 607572 (3)
| {Celiac disease, susceptibility to, 12} (2)
| * 608780 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 5| GTF2H5
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)
| {Microvascular complications of diabetes 6}, 612634 (3)
| ?ACAT2 deficiency, 614055 (1)
| * 147280 INSULIN-LIKE GROWTH FACTOR II RECEPTOR| IGF2R
| * 173350 PLASMINOGEN| PLG
| Thrombophilia, dysplasminogenemic (1)
| Plasminogen deficiency, types I and II (1)
| Conjunctivitis, ligneous, 217090 (3)
| Deafness, autosomal recessive 38 (2)
| Mental retardation, autosomal recessive 28 (2)
| Mitochondrial pyruvate carrier deficiency, 614741 (3)
| ?Periventricular nodular heterotopia 6, 615544 (3)
| * 605392 FIBROBLAST GROWTH FACTOR RECEPTOR 1 ONCOGENE PARTNER| FGFR1OP
| {Kala-azar, susceptibility to, 3} (2)
| {Coronary artery disease, susceptibility to} (1)
| [LPA deficiency, congenital] (3)
| Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
| Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3)
| * 601397 T BRACHYURY, MOUSE, HOMOLOG OF| T
| Sacral agenesis with vertebral anomalies, 615709 (3)
| Spinocerebellar ataxia 17, 607136 (3)
| * 600075 TATA BOX-BINDING PROTEIN| TBP
| * 188061 THROMBOSPONDIN II| THBS2
| Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
| Ciliary dyskinesia, primary, 18, 614874 (3)
| Hypotrichosis 10 (2)
| Spastic paraplegia 48, autosomal recessive, 613647 (3)
| {Strabismus, susceptibility to, 1} (2)
| Persistent polyclonal B-cell lymphocytosis, 606445 (3)
| Immunodeficiency 11, 615206 (3)
| Hyperaldosteronism, familial, type II (2)
| {Glucocorticoid therapy, response to}, 614400 (3)
| Spondylocostal dysostosis 3, autosomal recessive, 609813 (3)
| * 602686 MITOTIC ARREST-DEFICIENT 1, YEAST, HOMOLOG-LIKE 1| MAD1L1
| Prostate cancer, somatic, 176807 (3)
| Raine syndrome, 259775 (3)
| * 600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2| PMS2
| Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
| Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3)
| Ventricular tachycardia, catecholaminergic polymorphic, 3 (2)
| Dystonia, juvenile-onset, 607371 (3)
| Baraitser-Winter syndrome 1, 243310 (3)
| Spinocerebellar ataxia 21 (2)
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3)
| [Fasting plasma glucose level QTL 4] (2)
| Ectodermal dysplasia-syndactyly syndrome 2 (2)
| Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
| {Rheumatoid arthritis, systemic juvenile}, 604302 (3)
| {Kaposi sarcoma, susceptibility to}, 148000 (3)
| * 147620 INTERLEUKIN 6| IL6
| {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3)
| {Crohn disease-associated growth failure}, 266600 (3)
| Saethre-Chotzen syndrome, 101400 (3)
| * 601622 TWIST, DROSOPHILA, HOMOLOG OF, 1| TWIST1
| Craniosynostosis, type 1, 123100 (3)
| Robinow-Sorauf syndrome, 180750 (3)
| Macular dystrophy, dominant cystoid (2)
| Leukodystrophy, hypomyelinating, 5, 610532 (3)
| Bosley-Salih-Alorainy syndrome, 601536 (3)
| * 142955 HOMEOBOX A1| HOXA1
| Retinitis pigmentosa 42, 612943 (3)
| Thrombocytopenia 4, 612004 (3)
| Osteopetrosis, autosomal recessive 8, 615085 (3)
| Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3)
| Deafness, autosomal dominant 5, 600994 (3)
| Charcot-Marie-Tooth disease, type 2D, 601472 (3)
| Neuropathy, distal hereditary motor, type VA, 600794 (3)
| * 604088 G-SUBSTRATE
| ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, 615422 (3)
| Myopia 17 (2)
| {Stature QTL 17} (2)
| Growth hormone deficiency, isolated, type IB, 612781 (3)
| Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432 (3)
| Hand-foot-uterus syndrome, 140000 (3)
| Guttmacher syndrome, 176305 (3)
| ?Microtia, hearing impairment, and cleft palate (AR), 612290 (3)
| * 604685 HOMEOBOX A2| HOXA2
| {Asthma, susceptibility to, 2}, 608584 (3)
| Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)
| Atrial septal defect 4, 611363 (3)
| [Fasting plasma glucose level QTL 2] (2)

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