omimdefinitions

| * 600770 MUCIN 5, SUBTYPE B, TRACHEOBRONCHIAL| MUC5B
| Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
| Chromosome 11p15-p14 deletion syndrome (4)
| Hermansky-Pudlak syndrome 5, 614074 (3)
| Gnathodiaphyseal dysplasia, 166260 (3)
| Muscular dystrophy, limb-girdle, type 2L, 611307 (3)
| Miyoshi muscular dystrophy 3, 613319 (3)
| Deafness, autosomal recessive 18B, 614945 (3)
| Deafness, autosomal dominant 59 (2)
| {Bone mineral density, low, susceptibility to}, 615311 (3)
| ?Spastic paraplegia 41, autosomal dominant (2)
| Dystonia 24, 615034 (3)
| [Tuberculin skin test reactivity, absence of] (2)
| * 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR| BDNF
| Central hypoventilation syndrome, congenital, 209880 (3)
| {Obsessive-compulsive disorder, protection against}, 164230 (3)
| {Bulimia nervosa, age of onset of weight loss in}, 607499 (3)
| {Anorexia nervosa, susceptibility to}, 610269 (3)
| Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome (4)
| Acatalasemia, 614097 (3)
| Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3)
| Centrotemporal epilepsy (2)
| ?Aniridia, 106210 (3)
| Follicle-stimulating hormone deficiency, isolated, 229070 (3)
| * 180385 LIM DOMAIN ONLY 2| LMO2
| Myopia 7 (2)
| * 607108 PAIRED BOX GENE 6| PAX6
| Peters anomaly, 604229 (3)
| Cataract with late-onset corneal dystrophy, 106210 (3)
| Keratitis, 148190 (3)
| Foveal hypoplasia, 136520 (3)
| Morning glory disc anomaly, 120430 (3)
| Optic nerve hypoplasia, 165550 (3)
| Coloboma, ocular, 120200 (3)
| Coloboma of optic nerve, 120430 (3)
| Gillespie syndrome, 206700 (3)
| Lacticacidemia due to PDX1 deficiency, 245349 (3)
| Severe combined immunodeficiency, B cell-negative, 601457 (3)
| * 179615 RECOMBINATION-ACTIVATING GENE 1| RAG1
| Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3)
| Combined cellular and humoral immune defects with granulomas, 233650 (3)
| * 179616 RECOMBINATION-ACTIVATING GENE 2| RAG2
| Omenn syndrome, 603554 (3)
| Combined cellular and humoral immune defects with granulomas, 233650 (3)
| Wilms tumor, type 1, 194070 (3)
| Denys-Drash syndrome, 194080 (3)
| Nephrotic syndrome, type 4, 256370 (3)
| Frasier syndrome, 136680 (3)
| Meacham syndrome, 608978 (3)
| * 607102 WT1 GENE| WT1
| Deafness, autosomal recessive 51 (2)
| Exudative vitreoretinopathy-3 (2)
| WAGRO syndrome (4)
| Candidiasis, familial, 3 (2)
| Mental retardation, autosomal recessive 23 (2)
| {Osteoporosis}, 166710 (2)
| Cenani-Lenz syndactyly syndrome, 212780 (3)
| Sclerosteosis 2, 614305 (3)
| * 604641 MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 1| MAPK8IP1
| Peroxisome biogenesis disorder 8A, (Zellweger), 614876 (3)
| Peroxisome biogenesis disorder 8B, 614877 (3)
| Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)
| Exostoses, multiple, type 2, 133701 (3)
| Supranuclear palsy, progressive, 3 (2)
| ?Lysosomal acid phosphatase deficiency, 200950 (1)
| Parietal foramina 2, 609597 (3)
| Frontonasal dysplasia 2, 613451 (3)
| {Craniosynostosis 5, susceptibility to}, 615529 (3)
| * 600623 CD82 ANTIGEN| CD82
| Cardiomyopathy, familial hypertrophic, 4, 115197 (3)
| Cardiomyopathy, dilated, 1MM, 615396 (3)
| * 600958 MYOSIN-BINDING PROTEIN C, CARDIAC| MYBPC3
| Potocki-Shaffer syndrome (4)
| * 600925 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, J| PTPRJ
| Congenital disorder of glycosylation, type IIc, 266265 (3)
| Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350 (3)
| * 601592 RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD| RAPSN
| Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, 608931 (3)
| Fetal akinesia deformation sequence, 208150 (3)
| * 603846 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3| NDUFS3
| Mitochondrial complex I deficiency, 252010 (3)
| {Leukemia, chronic lymphocytic, susceptibility to, 1} (2)
| Hypoprothrombinemia, 613679 (3)
| * 176930 COAGULATION FACTOR II| F2
| Thrombophilia due to thrombin defect, 188050 (3)
| {Stroke, ischemic, susceptibility to}, 601367 (3)
| {Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3)
| Immunodeficiency, common variable, 6, 613496 (3)
| Hyperlipidemia, combined, 2 (2)
| Nanophthalmos-1 (2)
| Angioedema, hereditary, types I and II, 106100 (3)
| Complement component 4, partial deficiency of, 120790 (3)
| Leukocyte adhesion deficiency, type III, 612840 (3)
| Tooth agenesis, selective, 6, 613097 (3)
| Spinocerebellar ataxia 20 (4)
| Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3)
| Smith-Lemli-Opitz syndrome, 270400 (3)
| ?Hemochromatosis, type 5, 615517 (3)
| [Polyunsaturated fatty acids plasma level QTL1] (2)
| Pontocerebellar hypoplasia, type 10, 615803 (3)

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