omimdefinitions

| * 604863 LECITHIN RETINOL ACYLTRANSFERASE| LRAT
| Retinitis pigmentosa, juvenile, 613341 (3)
| {Stature QTL 12} (2)
| * 113730 UNCOUPLING PROTEIN 1| UCP1
| Panic disorder 3 (2)
| {Psoraisis susceptibility 9} (2)
| Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)
| Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)
| Smith-McCort dysplasia 2, 615222 (3)
| Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)
| * 131243 ENDOTHELIN RECEPTOR, TYPE A| EDNRA
| Hyperekplexia 2, autosomal recessive, 614619 (3)
| Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
| Microphthalmia, syndromic 14, 615877 (3)
| ?Charcot-Marie-Tooth disease, type 2R, 615490 (3)
| {Hirschsprung disease, susceptibility to, 9} (2)
| Moyamoya 6 with achalasia, 615750 (3)
| {Leprosy, susceptibility to}, 246300 (3)
| * 603028 TOLL-LIKE RECEPTOR 2| TLR2
| {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
| Aspartylglucosaminuria, 208400 (3)
| Atrial septal defect 6, 613087 (3)
| Retinitis pigmentosa 29 (2)
| Glutaric acidemia IIC, 231680 (3)
| Chromosome 4q32.1-q32.2 triplication syndrome (4)
| [Cinnamon odor, pleasantness of] (2)
| [High density lipoprotein cholesterol level QTL 4] (2)
| {Pancreatic cancer, susceptibility to, 1}, 606856 (3)
| Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
| Hypercalciuria, absorptive (2)
| ?Spinocerebellar ataxia 30 (2)
| Hereditary motor and sensory neuropathy V (2)
| Cranioosteoarthropathy, 259100 (3)
| * 601688 15-@HYDROXYPROSTAGLANDIN DEHYDROGENASE| HPGD
| Digital clubbing, isolated congenital, 119900 (3)
| Hip dysplasia, Beukes type (2)
| Dyskeratosis, hereditary benign intraepithelial (2)
| Factor XI deficiency, autosomal recessive, 612416 (3)
| * 264900 COAGULATION FACTOR XI| F11
| Facioscapulohumeral muscular dystrophy 1 (4)
| Fletcher factor deficiency, 612423 (3)
| Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 (3)
| Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 (3)
| {Herpes simplex encephalitis, susceptibility to, 2} 613002 (3)
| * 603029 TOLL-LIKE RECEPTOR 3| TLR3
| Deafness, autosomal dominant 24 (2)
| Myopia 22, autosomal dominant, 615420 (3)
| Bietti crystalline corneoretinal dystrophy, 210370 (3)
| Microphthalmia, isolated, with coloboma 9, 615145 (3)
| Muscular dystrophy, limb-girdle, type 2S, 615356 (3)
| * 151450 LEUKOCYTE ANTIGEN GROUP FIVE| LAG5
| * 603848 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 6| NDUFS6
| {Nicotine dependence, protection against}, 188890 (3)
| Parkinsonism-dystonia, infantile, 613135 (3)
| {Basal cell carcinoma, susceptibility to, 3} (2)
| {Glioma susceptibility 8} (2)
| {Lung cancer susceptibility 3} (2)
| Hartnup disorder, 234500 (3)
| * 608893 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 19|
| Hyperglycinuria, 138500 (3)
| {Bone marrow failure, telomere-related, 1}, 614742 (3)
| {Dyskeratosis congenita, autosomal recessive 4}, 613989 (3)
| {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3)
| {Coronary artery disease} (3)
| {Pulmonary fibrosis, telomere-related, 1}, 614742 (3)
| {Leukemia, acute myeloid}, 601626 (3)
| {Melanoma, cutaneous malignant, 9}, 615134 (3)
| Myopia 16 (2)
| Macular dystrophy, retinal, 3 (2)
| Mental retardation, autosomal recessive 5, 611091 (3)
| Epilepsy, myoclonic, familial adult, 3 (2)
| Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
| * 602568 METHIONINE SYNTHASE REDUCTASE| MTRR
| Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
| {Adiponectin, serum level of, QTL2} (2)
| Craniometaphyseal dysplasia, 123000 (3)
| Chondrocalcinosis 2, 118600 (3)
| Aneurysm, intracranial berry, 4 (2)
| Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
| Periventricular nodular heterotopia 3 (2)
| Myopia 19 (2)
| * 600857 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT A, FLAVOPROTEIN| SDHA
| Mitochondrial respiratory chain complex II deficiency, 252011 (3)
| Cardiomyopathy, dilated, 1GG, 613642 (3)
| Paragangliomas 5, 614165 (3)
| [Tuberculin skin test reactivity QTL] (2)
| Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
| * 108962 NATRIURETIC PEPTIDE RECEPTOR C| NPR3
| Albinism, oculocutaneous, type IV, 606574 (3)
| [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3)
| * 606202 SOLUTE CARRIER FAMILY 45, MEMBER 2| SLC45A2
| [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)
| Brachydactyly, type A1, 112500 (2)
| Joubert syndrome 17, 614615 (3)
| {Multiple sclerosis, susceptibility to, 3} (2)
| Multiple fibroadenomas of the breast, 615554 (3)
| ?Hyperprolactinemia, 615555 (3)
| Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
| Bile acid synthesis defect, congenital, 4, 214950 (3)
| {Inflammatory bowel disease 18} (2)

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