omimdefinitions

| Charcot-Marie-Tooth disease, type 2J, 607736 (3)
| Roussy-Levy syndrome, 180800 (3)
| Charcot-Marie-Tooth disease, type 2I, 607677 (3)
| Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3)
| Porphyria variegata, 176200 (3)
| Peroxisome biogenesis disorder 12A (Zellweger), 614886 (3)
| Noonan syndrome 8, 615355 (3)
| Retinitis pigmentosa 35, 610282 (3)
| Cone-rod dystrophy 10, 610283 (3)
| Immunodeficiency due to defect in CD3-zeta, 610163 (3)
| Acne inversa, familial, 1, 142690 (3)
| Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)
| * 191030 TROPOMYOSIN 3| TPM3
| Myopathy congenital, with fiber-type disproportion, 255310 (3)
| {Hyperlipidemia, familial combined, susceptibility to}, 602491 (3)
| * 182330 ATPase, Na+/K+ TRANSPORTING, BETA-1 POLYPEPTIDE| ATP1B1
| Bleeding disorder, east Texas type (2)
| Factor V deficiency, 227400 (3)
| {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3)
| {Stroke, ischemic, susceptibility to}, 601367 (3)
| {Budd-Chiari syndrome}, 600880 (3)
| * 612309 COAGULATION FACTOR V| F5
| {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)
| Thrombocytopenic purpura, autoimmune, 188030 (1)
| Immunodeficiency 20, 615707 (3)
| * 610665 Fc FRAGMENT OF IgG, LOW AFFINITY IIIb, RECEPTOR FOR| FCGR3B
| Li-Fraumeni syndrome 3 (2)
| * 603276 REGULATOR OF G PROTEIN SIGNALING 5| RGS5
| Mitochondrial complex I deficiency, 252010 (3)
| * 176310 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 1| PBX1
| Autoimmune lymphoproliferative syndrome, type IB, 601859 (3)
| {Lung cancer, susceptibility to}, 211980 (3)
| Adrenocorticotropic hormone deficiency, 201400 (3)
| Trimethylaminuria, 602079 (3)
| * 131210 SELECTIN E| SELE
| {Atopy, susceptibility to}, 147050 (3)
| Thrombophilia due to antithrombin III deficiency, 613118 (3)
| Mental retardation, autosomal dominant 18, 615074 (3)
| [Blood group, Duffy system], 110700 (3)
| * 613665 DUFFY ANTIGEN RECEPTOR FOR CHEMOKINES| DARC
| [White blood cell count QTL], 611862 (3)
| ?Giant axonal neuropathy 2, autosomal dominant, 610100 (3)
| SESAME syndrome, 612780 (3)
| Enlarged vestibular aqueduct, digenic, 600791 (3)
| Glycosylphosphatidylinositol deficiency, 610293 (3)
| Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3)
| [QT interval, variation in] (2)
| Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)
| {Deafness, nonsyndromic, modifier 1} (2)
| Agnathia-otocephaly complex, 202650 (3)
| {Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
| * 164690 V-ABL ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 2| ABL2
| {Macular degeneration, age-related, 1}, 603075 (3)
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
| Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3)
| Geroderma osteodysplasticum, 231070 (3)
| Glaucoma 1A, primary open angle, 137750 (3)
| {Alzheimer disease-14} (2)
| Pituitary hormone deficiency, combined, 4, 262700 (3)
| Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
| Periodontitis, aggressive, 2 (2)
| Phospholipase A2, group IV A, deficiency of (3)
| Prostate cancer 1, 601518 (3)
| * 603594 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4| TNFSF4
| Hyperparathyroidism-jaw tumor syndrome, 145001 (3)
| Hyperparathyroidism, familial primary, 145000 (3)
| * 607393 CELL DIVISION CYCLE PROTEIN 73, S. CEREVISIAE, HOMOLOG OF| CDC73
| Parathyroid carcinoma, 608266 (3)
| Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
| Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
| Nephrotic syndrome, type 2, 600995 (3)
| Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
| Microcephaly 5, primary, autosomal recessive, 608716 (3)
| Branchiootic syndrome 2 (2)
| {Celiac disease, susceptibility to, 7} (2)
| Glutamine deficiency, congenital, 610015 (3)
| Migraine, familial hemiplegic (2)
| Migraine with or without aura, susceptibility to (2)
| {Pelvic organ prolapse, susceptibility to, 1} (2)
| [Chitotriosidase deficiency], 614122 (3)
| {HIV-1, susceptibility to}, 609423 (3)
| {Graft-versus-host disease, protection against}, 614395 (3)
| * 124092 INTERLEUKIN 10| IL10
| {Hepatitic C virus, susceptibility to}, 609532 (3)
| Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3)
| * 134371 COMPLEMENT FACTOR H-RELATED 1| CFHR1
| {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)
| * 605336 COMPLEMENT FACTOR H-RELATED 3| CFHR3
| {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)
| Retinitis pigmentosa-12, autosomal recessive, 600105 (3)
| Leber congenital amaurosis 8, 613835 (3)
| Pigmented paravenous chorioretinal atrophy, 172870 (3)
| Factor XIIIB deficiency, 613235 (3)
| Pseudohypoaldosteronism, type IIA (2)
| Alzheimer disease-4, 606889 (3)
| Cardiomyopathy, dilated, 1V, 613697 (3)
| Supranuclear palsy, progressive, 2 (2)
| Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)
| Nystagmus 7, congenital, autosomal dominant (2)
| Hypokalemic periodic paralysis, type 1, 170400 (3)

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