omimdefinitions

| Arthrogryposis, distal, type 10 (2)
| * 601724 NEUROGENIC DIFFERENTIATION 1| NEUROD1
| Maturity-onset diabetes of the young 6, 606394 (3)
| Hemochromatosis, type 4, 606069 (3)
| {Schizophrenia, susceptibility to, 14} (2)
| Arrhythmogenic right ventricular dysplasia 4 (2)
| Ehlers-Danlos syndrome, type IV, 130050 (3)
| Ehlers-Danlos syndrome, type III, 130020 (3)
| Ehlers-Danlos syndrome, type I, 130000 (3)
| Muscle hypertrophy, 614160 (3)
| 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
| Orofacial cleft 10, 613705 (3)
| Mycobacterial infection, atypical, familial disseminated, 209950 (3)
| Mycobacterial and viral infections, susceptibility to, autosomal recessive, 613796 (3)
| Candidiasis, familial, 7, 614162 (3)
| {Systemic lupus erythematosus, susceptitbility to, 11}, 612253 (3)
| Histiocytoma, angiomatoid fibrous, somatic, 612160 (3)
| Amyotrophic lateral sclerosis 2, juvenile, 205100 (3)
| Primary lateral sclerosis, juvenile, 606353 (3)
| Spastic paralysis, infantile onset ascending, 607225 (3)
| Mitochondrial complex III deficiency, nuclear type 1, 124000 (3)
| Leigh syndrome, 256000 (3)
| Bjornstad syndrome, 262000 (3)
| GRACILE syndrome, 603358 (3)
| Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3)
| * 600799 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II| BMPR2
| Pulmonary venoocclusive disease 1, 265450 (3)
| Immunodeficiency due to CASP8 deficiency, 607271 (3)
| Hepatocellular carcinoma, somatic, 114550 (3)
| * 601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE| CASP8
| {Lung cancer, protection against}, 211980 (3)
| {Graves disease, susceptibility to, 4} (3)
| {Hypothyroidism, autoimmune}, 140300 (3)
| {Diabetes mellitus, insulin-dependent, susceptibility to}, 601388 (3)
| {Celiac disease, susceptibility to, 3}, 609755 (3)
| Immunodeficiency, common variable, 1, 607594 (3)
| {Restless legs syndrome 4} (2)
| Glass syndrome, 612313 (3)
| Autoimmune lymphoproliferative syndrome, type II, 603909 (3)
| * 601762 CASPASE 10, APOPTOSIS-RELATED CYSTEINE PROTEASE| CASP10
| Gastric cancer, somatic, 613659 (3)
| * 100720 CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE| CHRND
| Myasthenic syndrome, fast-channel congenital, 608930 (3)
| Multiple pterygium syndrome, lethal type, 253290 (3)
| * 100730 CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE| CHRNG
| Escobar syndrome, 265000 (3)
| Multiple pterygium syndrome, lethal type, 253290 (3)
| * 157655 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1| NDUFS1
| Cataract 39, multiple types, autosomal dominant, 615188 (3)
| Cataract 2, multiple types, 604307 (3)
| Cataract 4, multiple types, 115700 (3)
| Acrocapitofemoral dysplasia, 607778 (3)
| Brachydactyly, type A1, 112500 (3)
| {Epilepsy, juvenile myoclonic, susceptiblity to, 9} (2)
| Cerebrotendinous xanthomatosis, 213700 (3)
| {Aneurysm, intracranial berry, 9} (2)
| Spastic paraplegia 13, autosomal dominant, 605280 (3)
| Leukodystrophy, hypomyelinating, 4, 612233 (3)
| Spastic ataxia 3, autosomal recessive, 611390 (3)
| ?Mental retardation, autosomal recessive 42, 615802 (3)
| Myelodysplastic syndrome, somatic, 614286 (3)
| Joubert syndrome 14, 614424 (3)
| * 612322 FAST KINASE DOMAIN-CONTAINING PROTEIN 2| FASTKD2
| {Osteoarthritis susceptibility 4} (2)
| {Glioma, susceptibility to, somatic}, 137800 (3)
| Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)
| Ichthyosis, autosomal recessive 4B (harlequin), 242500 (3)
| Amyotrophic lateral sclerosis 19, 615515 (3)
| Glomerulopathy with fibronectin deposits 2, 601894 (3)
| Plasma fibronectin deficiency, 614101 (1)
| {Diabetes mellitus, insulin-dependent, 13} (2)
| * 186860 T-CELL LEUKEMIA/LYMPHOMA 4| TCL4
| * 601593 BRCA1-ASSOCIATED RING DOMAIN 1| BARD1
| {Systemic lupus erythematosus with nephritis, susceptibility to, 2} (2)
| Syndactyly, type 1 (4)
| Craniosynostosis, Philadelphia type, 185900 (4)
| Schimke immunoosseous dysplasia, 242900 (3)
| AICA-ribosiduria due to ATIC deficiency, 608688 (3)
| Carbamoylphosphate synthetase I deficiency, 237300 (3)
| {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
| {Venoocclusive disease after bone marrow transplantation} (3)
| * 146929 CHEMOKINE, CXC MOTIF, RECEPTOR 1| CXCR1
| Myopathy, myofibrillar, 1, 601419 (3)
| Cardiomyopathy, dilated, 1I, 604765 (3)
| Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3)
| ?Muscular dystrophy, limb-girdle, type 2R, 615325 (3)
| Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 (3)
| Alacrima, achalasia, and mental retardation syndrome, 615510 (3)
| Paroxysmal nonkinesigenic dyskinesia, 118800 (3)
| {Tuberculosis, susceptibility to} (2)
| {Neuroblastoma, susceptibility to, 5} (2)
| Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)
| 3-M syndrome 2, 612921 (3)
| Corneal fleck dystrophy, 121850 (3)
| {Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3)
| {Buruli ulcer, susceptibility to}, 610446 (3)
| Odontoonychodermal dysplasia, 257980 (3)
| Schopf-Schulz-Passarge syndrome, 224750 (3)
| Tooth agenesis, selective, 4, 150400 (3)
| Pseudohyperkalemia, familial, 2, due to red cell leak (2)

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