omimdefinitions

| {Kawasaki disease, susceptibility to}, 611775 (3)
| [Blood group, Lutheran system], 111200 (3)
| * 612773 BASAL CELL ADHESION MOLECULE| BCAM
| [Blood group, Lutheran null], 247420 (3)
| Diamond-Blackfan anemia 1, 105650 (3)
| Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)
| Transient erythroblastopenia of childhood (2)
| Hypocalciuric hypercalcemia, familial, type III, 600740 (3)
| Myotonic dystrophy 1, 160900 (3)
| Cerebrooculofacioskeletal syndrome 4, 610758 (3)
| Xeroderma pigmentosum, group D, 278730 (3)
| * 126340 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2| ERCC2
| Cerebrooculofacioskeletal syndrome 2, 610756 (3)
| * 126391 LIGASE I, DNA, ATP-DEPENDENT| LIG1
| Mental retardation, autosomal recessive, 11 (2)
| 3-methylglutaconic aciduria, type III, 258501 (3)
| Optic atrophy 3 with cataract, 165300 (3)
| 3-M syndrome 3, 614205 (3)
| {Meconium ileus in cystic fibrosis, susceptibility to} (2)
| * 603157 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 2| PIK3R2
| Ciliary dyskinesia, primary, 20, 615067 (3)
| Cone-rod retinal dystrophy-2, 120970 (3)
| Leber congenital amaurosis 7, 613829 (3)
| * 130410 ELECTRON TRANSFER FLAVOPROTEIN, BETA POLYPEPTIDE| ETFB
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)
| Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3)
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3)
| [Bombay phenotype] (3)
| {Norwalk virus infection, resistance to} (3)
| [Bombay phenotype] (3)
| {Vitamin B12 plasma level QTL1}, 612542 (3)
| [Plasma glucose, 2-hour, QTL 2] (2)
| Glycogen storage disease 0, muscle, 611556 (3)
| Charcot-Marie-Tooth disease, type 2B2, 605589 (3)
| Glaucoma 1, open angle, 1O, 613100 (3)
| Spastic paraplegia 12, autosomal dominant, 604805 (3)
| Branchiootorenal syndrome 2, 610896 (3)
| * 600040 BCL2-ASSOCIATED X PROTEIN| BAX
| T-cell acute lymphoblastic leukemia, somatic, 613065 (3)
| Hyperferritinemia-cataract syndrome, 600886 (3)
| Neurodegeneration with brain iron accumulation 3, 606159 (3)
| L-ferritin deficiency, dominant and recessive, 615604 (3)
| Spinocerebellar ataxia 13, 605259 (3)
| {Colorectal cancer, susceptibility to, 10}, 612591 (3)
| Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)
| Deafness, autosomal dominant 4B, 614614 (3)
| Ethylmalonic encephalopathy, 602473 (3)
| Hypogonadism, hypergonadotropic (3)
| ?Male pseudohermaphroditism due to defective LH (1)
| Progressive familial heart block, type IB, 604559 (3)
| Deafness, autosomal dominant 4A, 600652 (3)
| Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
| Striatonigral degeneration, infantile, 271930 (3)
| Ciliary dyskinesia, primary, 2, 606763 (3)
| Bleeding disorder, platelet-type, 11, 614201 (3)
| {Prostate cancer, hereditary, 15} (2)
| * 604946 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC
| [Kallikrein, decreased urinary activity of] (3)
| Amelogenesis imperfecta, type IIA1, 204700 (3)
| Mental retardation, autosomal recessive 41, 615637 (3)
| Cataract 19, 615277 (3)
| {Menopause, natural, age at, QTL2} (2)
| Hydatidiform mole, 231090 (3)
| Familial cold autoinflammatory syndrome 2, 611762 (3)
| Epileptic encephalopathy, early infantile, 10, 613402 (3)
| Spinocerebellar ataxia 14, 605361 (3)
| Retinitis pigmentosa 11, 600138 (3)
| Pontocerebellar hypoplasia type 2C, 612390 (3)
| Cardiomyopathy, familial hypertrophic, 7, 613690 (3)
| Cardiomyopathy, familial restrictive, 115210 (3)
| Cardiomyopathy, dilated, 2A, 611880 (3)
| Cardiomyopathy, dilated, 1FF, 613286 (3)
| Nemaline myopathy 5, Amish type, 605355 (3)
| Spermatogenic failure 5, 243060 (3)
| * 176640 PRION PROTEIN| PRNP
| Gerstmann-Straussler disease, 137440 (3)
| Insomnia, fatal familial, 600072 (3)
| Prion disease with protracted course, 606688 (3)
| Huntington disease-like 1, 603218 (3)
| {Kuru, susceptibility to}, 245300 (3)
| Cerebral amyloid angiopathy, PRNP-related, 137440 (3)
| [Body mass index QTL6] (2)
| Amyotrophic lateral sclerosis 7 (2)
| Diabetes insipidus, neurohypophyseal, 125700 (3)
| Retinitis pigmentosa 46, 612572 (3)
| Kindler syndrome, 173650 (3)
| Spinocerebellar ataxia 36, 614153 (3)
| Spinocerebellar ataxia 23, 610245 (3)
| Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)
| {Restless legs syndrome 5} (2)
| Anonychia congenita, 206800 (3)
| Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
| Fazio-Londe disease, 211500 (3)
| Warburg micro syndrome 4, 615663 (3)
| Neurodegeneration with brain iron accumulation 1, 234200 (3)
| HARP syndrome, 607236 (3)
| Spinocerebellar ataxia 35, 613908 (3)
| Corneal endothelial dystrophy 2, autosomal recessive, 217700 (3)
| Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
| Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)

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