omimdefinitions

| Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3)
| Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3)
| Spinocerebellar ataxia, autosomal recessive 4 (2)
| [Blood group, Vel system], 615264 (3)
| ?Immunodeficiency 16, 615593 (3)
| * 601990 TUMOR PROTEIN p73| TP73
| Galactose epimerase deficiency, 230350 (3)
| Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
| Muscular dystrophy, rigid spine, 1, 602771 (3)
| Myopathy, congenital, with fiber-type disproportion, 255310 (3)
| {Dyslexia, susceptibility to, 8} (2)
| Fleck retina, familial benign, 228980 (3)
| Mental retardation, autosomal dominant 14, 614607 (3)
| {Bardet-Biedl syndrome, modifier of}, 209900 (3)
| Erythrokeratodermia variabilis et progressiva, 133200 (3)
| Deafness, autosomal dominant 2B, 612644 (3)
| Deafness, autosomal recessive (3)
| Deafness, autosomal dominant, with peripheral neuropathy (3)
| Deafness, digenic, GJB2/GJB3, 220290 (3)
| * 605425 GAP JUNCTION PROTEIN, BETA-4| GJB4
| {Colorectal cancer}, 114500 (3)
| SERKAL syndrome, 611812 (3)
| Mullerian aplasia and hyperandrogenism, 158330 (3)
| Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3)
| Neutrophilia, hereditary, 162830 (3)
| ?Immunodeficiency 22, 615758 (3)
| Gallbladder disease 3 (2)
| Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3)
| * 609595 R-SPONDIN FAMILY, MEMBER 1| RSPO1
| Corneal dystrophy, Fuchs endothelial, 1, 136800 (3)
| Corneal dystrophy polymorphous posterior, 2, 609140 (3)
| Cataract 34, multiple types (2)
| Adenomas, multiple colorectal, 608456 (3)
| Gastric cancer, somatic, 613659 (3)
| Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)
| Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)
| GLUT1 deficiency syndrome 1, 606777 (3)
| GLUT1 deficiency syndrome 2, 612126 (3)
| {Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847 (3)
| Dystonia 9, 601042 (3)
| Epileptic encephalopathy, early infantile, 18, 615476 (3)
| Immunodeficiency 24, 615897 (3)
| Leukoencephalopathy with vanishing white matter, 603896 (3)
| Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
| Mental retardation, autosomal recessive 12, 611090 (3)
| Epileptic encephalopathy, early infantile, 15, 615006 (3)
| Ptosis, hereditary congenital, 1 (2)
| Reticular dysgenesis, 267500 (3)
| * 168360 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4| ELAVL4
| [Blood group, Scianna system], 111750 (3)
| [Blood group, Radin], 111620 (3)
| Fucosidosis, 230000 (3)
| Deafness, autosomal dominant 2A, 600101 (3)
| Osteogenesis imperfecta, type VIII, 610915 (3)
| {Myocardial infarction, susceptibility to}, 608446 (3)
| Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
| Thrombocythemia 2, 601977 (3)
| Myelofibrosis with myeloid metaplasia, somatic, 254450 (3)
| Porphyria cutanea tarda, 176100 (3)
| * 613521 UROPORPHYRINOGEN DECARBOXYLASE| UROD
| Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3)
| Restrictive dermopathy, lethal, 275210 (3)
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3)
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3)
| Macrostomia (2)
| {Drug addiction, susceptibility to}, 606581 (3)
| Orofacial cleft 13 (2)
| Microcephaly 7, primary, autosomal recessive, 612703 (3)
| [Bone mineral density QTL 14] (2)
| Epiphyseal dysplasia, multiple, 2, 600204 (3)
| {Intervertebral disc disease, susceptibility to}, 603932 (3)
| Stickler syndrome, type V, 614284 (3)
| Renal hypodysplasia, nonsyndromic, 1 (2)
| Desmosterolosis, 602398 (3)
| Forsythe-Wakeling syndrome (2)
| Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (3)
| Parkinson disease 19, juvenile-onset, 615528 (3)
| C8 deficiency, type I, 613790 (3)
| C8 deficiency, type II, 613789 (3)
| Myopathy due to CPT II deficiency, 255110 (3)
| CPT deficiency, hepatic, type II, 600649 (3)
| CPT II deficiency, lethal neonatal, 608836 (3)
| {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3)
| Anterior segment mesenchymal dysgenesis, 107250 (3)
| Aphakia, congenital primary, 610256 (3)
| Meier-Gorlin syndrome 1, 224690 (3)
| Parkinson disease 10 (2)
| Hypercholesterolemia, familial, 3, 603776 (3)
| * 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9| PCSK9
| Ceroid lipofuscinosis, neuronal, 1, 256730 (3)
| Medulloblastoma, 155255 (3)
| * 603673 PATCHED, DROSOPHILA, HOMOLOG OF, 2| PTCH2
| Basal cell nevus syndrome, 109400 (3)
| {Breast cancer, invasive ductal}, 114480 (3)
| Lymphoma, non-Hodgkin, somatic, 605027 (3)
| * 603615 RAD54, S. CEREVISIAE, HOMOLOG-LIKE| RAD54L
| Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3)
| {Stature QTL 23} (2)
| Corneal dystrophy, gelatinous drop-like, 204870 (3)

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