omimdefinitions

| Apnea, postanesthetic (3)
| Goiter, multinodular, 3 (2)
| {Diabetes mellitus, noninsulin-dependent}, 135853 (3)
| Fanconi-Bickel syndrome, 227810 (3)
| Retinitis pigmentosa 68, 615725 (3)
| Alopecia-mental retardation syndrome 2 (2)
| Febrile seizures, familial, 10 (2)
| Ciliary dyskinesia, primary, 14, 613807 (3)
| 3-methylglutaconic aciduria, type V, 610198 (3)
| Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3)
| Short stature, 604271 (3)
| * 171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA| PIK3CA
| Breast cancer, somatic, 114480 (3)
| Colorectal cancer, somatic, 114500 (3)
| Gastric cancer, somatic, 613659 (3)
| Hepatocellular carcinoma, somatic, 114550 (3)
| Nonsmall cell lung cancer, somatic, 211980 (3)
| Keratosis, seborrheic, somatic, 182000 (3)
| Nevus, epidermal, somatic, 162900 (3)
| CLOVE syndrome, somatic, 612918 (3)
| Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3)
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic, 603387 (3)
| Cowden syndrome 5, 615108 (3)
| Spermatogenic failure 6, 102530 (3)
| Microphthalmia, syndromic 3, 206900 (3)
| * 184429 SRY-BOX 2| SOX2
| Thrombocythemia 1, 187950 (3)
| Alopecia-mental retardation syndrome 1 (2)
| Epilepsy, familial adult myoclonic, 4 (2)
| Adiponectin deficiency, 612556 (3)
| Congenital disorder of glycosylation, type Id, 601110 (3)
| Abdominal obesity-metabolic syndrome (2)
| * 109565 B-CELL LYMPHOMA 6| BCL6
| Hypomagnesemia 3, renal, 248250 (3)
| Cataract 20, multiple types, 116100 (3)
| ?Fanconi renotubular syndrome 3, 615605 (3)
| * 603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5| EIF2B5
| Ovarioleukodystrophy, 603896 (3)
| Parkinson disease 18, 614251 (3)
| Thrombophilia due to HRG deficiency, 613116 (3)
| * 142640 HISTIDINE-RICH GLYCOPROTEIN| HRG
| [Kininogen deficiency], 228960 (3)
| * 612358 KININOGEN 1| KNG1
| Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3)
| Split-hand/foot malformation 4, 605289 (3)
| Hay-Wells syndrome, 106260 (3)
| ADULT syndrome, 103285 (3)
| Limb-mammary syndrome, 603543 (3)
| Rapp-Hodgkin syndrome, 129400 (3)
| * 603273 TUMOR PROTEIN p63| TP63
| Hypotrichosis 7, 604379 (3)
| * 607365 LIPASE H| LIPH
| 3MC syndrome 1, 257920 (3)
| Spastic paraplegia 14, autosomal recessive (2)
| Deafness, autosomal dominant 44, 607453 (3)
| {Celiac disease, susceptibility to, 11} (2)
| * 608289 INSULIN-LIKE GROWTH FACTOR 2 mRNA-BINDING PROTEIN 2| IGF2BP2
| {Lung cancer susceptibility 5} (2)
| * 600700 LIM DOMAIN-CONTAINING PREFERRED TRANSLOCATION PARTNER IN LIPOMA| LPP
| Leukemia, acute myeloid, 601626 (3)
| Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)
| Optic atrophy 1, 165500 (3)
| {Glaucoma, normal tension, susceptibility to}, 606657 (3)
| Optic atrophy plus syndrome, 125250 (3)
| Morbid obesity and spermatogenic failure, 615703 (3)
| ?Spinocerebellar ataxia, autosomal recessive 15, 615705 (3)
| Chromosome 3q29 microdeletion syndrome (4)
| Chromosome 3q29 microduplication syndrome (4)
| Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3)
| Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
| RIDDLE syndrome, 611943 (3)
| Diamond-Blackfan anemia 5, 612528 (3)
| * 102680 ADDUCIN 1| ADD1
| Achondroplasia, 100800 (3)
| Hypochondroplasia, 146000 (3)
| Thanatophoric dysplasia, type I, 187600 (3)
| Crouzon syndrome with acanthosis nigricans, 612247 (3)
| Muenke syndrome, 602849 (3)
| Bladder cancer, somatic, 109800 (3)
| * 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3| FGFR3
| Cervical cancer, somatic, 603956 (3)
| LADD syndrome, 149730 (3)
| CATSHL syndrome, 610474 (3)
| Nevus, epidermal, somatic, 162900 (3)
| Thanatophoric dysplasia, type II, 187601 (3)
| Spermatocytic seminoma, somatic, 273300 (3)
| Huntington disease, 143100 (3)
| Mucopolysaccharidosis Ih, 607014 (3)
| Mucopolysaccharidosis Is, 607016 (3)
| Mucopolysaccharidosis Ih/s, 607015 (3)
| Myopia 23, autosomal recessive, 615431 (3)
| Muscular dystrophy, congenital, merosin-positive (2)
| ?N-acetylaspartate deficiency, 614063 (3)
| Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)
| Retinitis pigmentosa-40, 613801 (3)
| Recombination rate QTL 1, 612042 (3)
| Cherubism, 118400 (3)
| * 605303 TRANSFORMING, ACIDIC, COILED-COIL-CONTAINING PROTEIN 3| TACC3
| UV-sensitive syndrome 3, 614640 (3)
| Wolf-Hirschhorn syndrome (4)

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