omimdefinitions

| Kenny-Caffey syndrome, type 2, 127000 (3)
| Gracile bone dysplasia, 602361 (3)
| Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 (3)
| Joubert syndrome 16, 614465 (3)
| Joubert syndrome 2, 608091 (3)
| Meckel syndrome 2, 603194 (3)
| Oocyte maturation defect, 615774 (3)
| * 192020 SECRETOGLOBIN, FAMILY 1A, MEMBER 1| SCGB1A1
| * 209901 BBS1 GENE| BBS1
| Lipodystrophy, congenital generalized, type 2, 269700 (3)
| Silver spastic paraplegia syndrome, 270685 (3)
| * 606158 BSCL2 GENE| BSCL2
| * 168461 CYCLIN D1| CCND1
| {von Hippel-Lindau syndrome, modifier of}, 193300 (3)
| {Multiple myeloma, susceptibility to}, 254500 (3)
| CPT deficiency, hepatic, type IA, 255120 (3)
| Cutis laxa, autosomal recessive, type IB, 614437 (3)
| Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3)
| Intrinsic factor deficiency, 261000 (3)
| {Prostate cancer, hereditary, 14} (2)
| {Diabetes mellitus, insulin-dependent, 4} (2)
| Multiple endocrine neoplasia 1, 131100 (3)
| * 613733 MEN1 GENE| MEN1
| Parathyroid adenoma, somatic (3)
| Lipoma, somatic (3)
| Angiofibroma, somatic (3)
| Adrenal adenoma, somatic (3)
| * 147138 MEMBRANE-SPANNING 4 DOMAINS, SUBFAMILY A, MEMBER 2| MS4A2
| Immunodeficiency, common variable, 5, 613495 (3)
| * 602141 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8| NDUFS8
| * 161015 NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1| NDUFV1
| * 164009 NUCLEAR MITOTIC APPARATUS PROTEIN 1| NUMA1
| Otodental dysplasia chromsome deletion syndrome (4)
| Herpes simplex encephalitis, susceptibility to, 1, 610551 (3)
| McArdle disease, 232600 (3)
| ?Bleeding disorder, platelet-type, 18, 615888 (3)
| * 180721 ROD OUTER SEGMENT PROTEIN 1| ROM1
| Hypouricemia, renal, 220150 (3)
| Spinal muscular atrophy, chronic distal, autosomal recessive (2)
| Spastic paraplegia, optic atrophy, and neuropathy (2)
| Spinocerebellar ataxia 5, 600224 (3)
| Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)
| Cervical carcinoma (2)
| {Obesity, susceptibility to, BMIQ4}, 607447 (3)
| * 602044 UNCOUPLING PROTEIN 3| UCP3
| Best macular dystrophy, 153700 (3)
| * 607854 BESTROPHIN 1| BEST1
| Vitelliform macular dystrophy, adult-onset, 608161 (3)
| Bestrophinopathy, 611809 (3)
| Vitreoretinochoroidopathy, 193220 (3)
| Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)
| Retinitis pigmentosa-50, 613194 (3)
| Retinitis pigmentosa, concentric, 613194 (3)
| Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433 (3)
| * 606608 YES-ASSOCIATED PROTEIN 1, 65-KD| YAP1
| [Alpha-actinin-3 deficiency] (3)
| [Sprinting performance] (3)
| Brugada syndrome 6, 613119 (3)
| Neuropathy, hereditary sensory, type IF, 615632 (3)
| Nestor-Guillermo progeria syndrome, 614008 (3)
| Deafness, autosomal recessive 93, 614899 (3)
| Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427 (3)
| Spermatogenic failure 7, 612997 (3)
| Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)
| Mental retardation, autosomal dominant 17, 615009 (3)
| Paragangliomas 2, 601650 (3)
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 (3)
| Aicardi-Goutieres syndrome 3, 610329 (3)
| [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
| Neuronopathy, distal hereditary motor, type VI, 604320 (3)
| Pituitary adenoma, growth hormone-secreting, 102200 (3)
| Pituitary adenoma, prolactin-secreting, 600634 (3)
| Pituitary adenoma, ACTH-secreting, 219090 (3)
| Cold-induced sweating syndrome 1, 610313 (3)
| Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759 (3)
| Deafness, autosomal recessive 63, 611451 (3)
| Fibrosis of extraocular muscles, congenital, 2, 602078 (3)
| {Autism susceptibility 17}, 613436 (3)
| Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)
| Osteoporosis-pseudoglioma syndrome, 259770 (3)
| [Bone mineral density variability 1], 601884 (3)
| Hyperostosis, endosteal, 144750 (3)
| van Buchem disease, type 2, 607636 (3)
| * 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5| LRP5
| {Osteoporosis}, 166710 (3)
| Exudative vitreoretinopathy 4, 601813 (3)
| Osteopetrosis, autosomal dominant 1, 607634 (3)
| Pyruvate carboxylase deficiency, 266150 (3)
| Osteopetrosis, autosomal recessive 1, 259700 (3)
| {Dermatitis, atopic, susceptibility to, 7} (2)
| Usher syndrome, type 1B, 276900 (3)
| Deafness, autosomal recessive 2, 600060 (3)
| Deafness, autosomal dominant 11, 601317 (3)
| {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
| Osteogenesis imperfecta, type X, 613848 (3)
| Vitreoretinopathy, neovascular inflammatory, 193235 (3)
| * 603025 PHOSPHATIDYLINOSITOL-BINDING CLATHRIN ASSEMBLY PROTEIN| PICALM
| Leukemia, acute T-cell lymphoblastic (3)
| {Systemic lupus erythematosus with hemolytic anemia} (2)
| {?Schizophrenia}, 181500 (2)

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