omimdefinitions

| Alagille syndrome 2, 610205 (3)
| Hajdu-Cheney syndrome, 102500 (3)
| Phosphoglycerate dehydrogenase deficiency, 601815 (3)
| Neu-Laxova syndrome, 256520 (3)
| Meningioma, radiation-induced (2)
| {Anorexia nervosa, susceptibility to, 1} (2)
| Choreoathetosis/spasticity, episodic (2)
| {Psoriasis susceptibility 7} (2)
| Thrombocytopenia-absent radius syndrome, 274000 (3)
| Congenital disorder of glycosylation, type Io, 612937 (3)
| Cone-rod dystrophy 8 (2)
| Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)
| {Alzheimer disease-13} (2)
| Ectopia lentis, isolated, autosomal recessive, 225100 (3)
| Ectopia lentis et pupillae, 225200 (3)
| * 126110 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR| ARNT
| Epilepsy, nocturnal frontal lobe, 3, 605375 (3)
| Pycnodysostosis, 265800 (3)
| Urbach-Wiethe disease, 247100 (3)
| Ichthyosis vulgaris, 146700 (3)
| {Dermatitis, atopic, susceptibility to, 2}, 605803 (3)
| Gaucher disease, type I, 230800(3)
| Gaucher disease, type II, 230900 (3)
| Gaucher disease, type III, 231000 (3)
| Gaucher disease, type IIIC, 231005 (3)
| Gaucher disease, perinatal lethal, 608013 (3)
| {Parkinson disease, late-onset, susceptibility to}, 168600 (3)
| {Lewy body dementia, susceptibility to}, 127750 (3)
| Hemochromatosis, type 2A, 602390 (3)
| Vohwinkel syndrome with ichthyosis, 604117 (3)
| * 604684 MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA, TRANSLOCATED TO, 11| MLLT11
| Medullary cystic kidney disease 1, 174000 (3)
| Pyruvate kinase deficiency, 266200 (3)
| Adenosine triphosphate, elevated, of erythrocytes, 102900 (3)
| Renal cell carcinoma, papillary, 605074 (3)
| {Psoriasis susceptibility 4} (2)
| Thyroid carcinoma, papillary, with papillary renal neoplasia (2)
| Nephropathy-hypertension (2)
| Paragangliomas 3, 605373 (3)
| * 602413 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C, INTEGRAL MEMBRANE PROTEIN,
| Gastrointestinal stromal tumor, 606764 (3)
| Elliptocytosis-2, 130600 (3)
| Pyropoikilocytosis, 266140 (3)
| Spherocytosis, type 3, 270970 (3)
| {Asperger syndrome susceptibility 3} (2)
| Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
| Medullary thyroid carcinoma, familial, 155240 (3)
| Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)
| * 104770 AMYLOID P COMPONENT, SERUM| APCS
| Apolipoprotein A-II deficiency (3)
| {Hypercholesterolemia, familial, modifier of}, 143890 (3)
| Migraine, familial hemiplegic, 2, 602481 (3)
| Alternating hemiplegia of childhood, 104290 (3)
| * 182340 ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE| ATP1A2
| [Bone mineral density QTL 2] (2)
| Deafness, autosomal dominant 7 (2)
| Deafness, autosomal dominant 49 (2)
| * 146790 Fc FRAGMENT OF IgG, LOW AFFINITY IIa, RECEPTOR FOR| FCGR2A
| {Malaria, severe, susceptibility to}, 611162 (3)
| {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)
| {Systemic lupus erythematosus, susceptibility to, 14} (2)
| * 600533 VANG-LIKE 2| VANGL2
| Chromosome 1q21.1 deletion syndrome (4)
| Chromosome 1q21.1 duplication syndrome (4)
| Cataract 1, multiple types, 116200 (3)
| {Neuroblastoma, susceptibility to, 6} (2)
| Peroxisome biogenesis disorder 14B, 614920 (3)
| [Uric acid concentration, serum, QTL6] (2)
| Bare lymphocyte syndrome, type II, complementation group C, 209920 (3)
| * 601863 REGULATORY FACTOR X, 5| RFX5
| Atrial fibrillation, familial, 11, 614049 (3)
| Atrial standstill, digenic (GJA5/SCN5A), 108770 (3)
| Retinitis pigmentosa 18, 601414 (3)
| Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3)
| Cardiomyopathy, dilated, 1A, 115200 (3)
| Lipodystrophy, familial partial, 2, 151660 (3)
| * 150330 LAMIN A/C| LMNA
| Charcot-Marie-Tooth disease, type 2B1, 605588 (3)
| Muscular dystrophy, congenital, 613205 (3)
| Muscular dystrophy, limb-girdle, type 1B, 159001 (3)
| Mandibuloacral dysplasia, 248370 (3)
| Hutchinson-Gilford progeria, 176670 (3)
| Restrictive dermopathy, lethal, 275210 (3)
| Heart-hand syndrome, Slovenian type, 610140 (3)
| Malouf syndrome, 212112 (3)
| Acrofacial dysostosis 1, Nager type, 154400 (3)
| * 146760 Fc FRAGMENT OF IgG, HIGH AFFINITY Ia, RECEPTOR FOR| FCGR1A
| Dyschromatosis symmetrica hereditaria, 127400 (3)
| Aicardi-Goutieres syndrome 6, 615010 (3)
| Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)
| Hair, curly (2)
| [Interleukin-6 receptor, soluble, serum level of, QTL], 614689 (3)
| [Interleukin 6, serum level of, QTL], 614752 (3)
| * 605554 CD244 ANTIGEN| CD244
| * 604590 Fc FRAGMENT OF IgG, LOW AFFINITY IIb, RECEPTOR FOR| FCGR2B
| {Malaria, resistance to}, 611162 (3)
| Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3)
| Charcot-Marie-Tooth disease, type 1B, 118200 (3)
| Dejerine-Sottas disease, 145900 (3)
| Neuropathy, congenital hypomyelinating, 605253 (3)

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