omimdefinitions

| Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3)
| 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3)
| 46XY sex reversal 7, 233420 (3)
| ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia 3, 615424 (3)
| Amyotrophic lateral sclerosis 20, 615426 (3)
| Myxoid liposarcoma, 613488 (1)
| Vitamin D-dependent rickets, type I, 264700 (3)
| Stickler syndrome, type I, 108300 (3)
| Kniest dysplasia, 156550 (3)
| Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
| SED congenita, 183900 (3)
| SMED Strudwick type, 184250 (3)
| Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
| Spondyloperipheral dysplasia, 271700 (3)
| SED, Namaqualand type (3)
| Osteoarthritis with mild chondrodysplasia, 604864 (3)
| Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
| Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
| Otospondylomegaepiphyseal dysplasia, 215150 (3)
| Avascular necrosis of the femoral head, 608805 (3)
| Legg-Calve-Perthes disease, 150600 (3)
| Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
| Czech dysplasia, 609162 (3)
| Mental retardation, autosomal recessive 25 (2)
| Ciliary dyskinesia, primary, 27, 615504 (3)
| * 614478 CHROMOSOME 12 OPEN READING FRAME 62| C12ORF62
| Mental retardation, FRA12A type, 136630 (3)
| Kabuki syndrome 1, 147920 (3)
| Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3)
| Osteogenesis imperfecta, type XII, 613849 (3)
| Aortic aneurysm, familial abdominal, 4 (2)
| * 601873 BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE 1| B4GALNT1
| ?Infantile liver failure syndrome 2, 615486 (3)
| Glycogen storage disease VII, 232800 (3)
| Native American myopathy, 255995 (3)
| {Melanoma, cutaneous malignant, 3}, 609048 (3)
| Glaucoma 1, open angle, P (4)
| Mucopolysaccharidosis type IIID, 252940 (3)
| {TSC2 angiomyolipomas, renal, modifier of}, 613254 (3)
| * 147570 INTERFERON, GAMMA| IFNG
| {Tuberculosis, protection against}, 607948 (3)
| {AIDS, rapid progression to}, 609423 (3)
| {Hepatitis C virus, response to therapy of}, 609532 (3)
| Osteopoikilosis, 166700 (3)
| * 607844 LEM DOMAIN-CONTAINING PROTEIN 3| LEMD3
| Melorheostosis with osteopoikilosis, 155950 (3)
| {Autism susceptibility 13} (2)
| Spermatogenic failure 9, 613958 (3)
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3)
| * 604597 GLUTAMATE RECEPTOR-INTERACTING PROTEIN 1| GRIP1
| Leiomyoma, uterine, somatic, 150699 (2)
| {Asthma susceptibility 5}, 611064 (3)
| Deafness, autosomal recessive 74, 613718 (3)
| {Stature QTL 9} (2)
| {Accelerated tumor formation, susceptibility to}, 614401 (3)
| {Inflammatory bowel disease 26} (2)
| * 153450 LYSOZYME| LYZ
| Myopathy, centronuclear, 3, 614408 (3)
| Dyschromatosis universalis hereditaria 2 (2)
| Myopia-3 (2)
| * 607478 TRYPTOPHAN HYDROXYLASE 2| TPH2
| {Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
| * 610148 BBS10 GENE| BBS10
| Deafness, autosomal recessive 84A, 613391 (3)
| Joubert syndrome 5, 610188 (3)
| Senior-Loken syndrome 6, 610189 (3)
| Leber congenital amaurosis 10, 611755 (3)
| Meckel syndrome 4, 611134 (3)
| * 610142 CENTROSOMAL PROTEIN, 290-KD| CEP290
| Corneal dystrophy, congenital stromal, 610048 (3)
| ?Frontonasal dysplasia 3, 613456 (3)
| Deafness, autosomal recessive 84B, 614944 (3)
| Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3)
| Mental retardation, autosomal recessive 34, 614499 (3)
| Nephronophthisis 18, 615862 (3)
| Cornea plana congenita, recessive, 217300 (3)
| [Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3)
| Hyperpigmentation, familial progressive, 2, 145250 (3)
| Male germ cell tumor (2)
| * 614530 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 12| NDUFA12
| ?Cardiomyopathy, dilated, 1T, 613740 (3)
| * 100790 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG OF, 1| ASCL1
| Haddad syndrome, 209880 (3)
| [Histidinemia], 235800 (3)
| Major depressive disorder 1, 608516 (2)
| Epilepsy, familial temporal lobe, 2 (2)
| Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3)
| Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
| Deafness, autosomal dominant 25, 605583 (3)
| Mitochondrial phosphate carrier deficiency, 610773 (3)
| Spermatogenic failure 4, 270960 (3)
| * 604759 SYNAPTONEMAL COMPLEX PROTEIN 3| SYCP3
| Spastic paraplegia 36, autosomal dominant (2)
| Darier disease, 124200 (3)
| Acrokeratosis verruciformis, 101900 (3)
| Immunodeficiency with hyper IgM, type 5, 608106 (3)
| Cardiomyopathy, familial hypertrophic, 10, 608758 (3)
| Arthrogryposis, distal, type 1B, 614335 (3)
| Lethal congenital contracture syndrome 4, 614915 (3)
| Mucolipidosis III alpha/beta, 252600 (3)

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