omimdefinitions

| Bifid nose with or without anorectal and renal anomalies, 608980 (3)
| Manitoba oculotrichoanal syndrome, 248450 (3)
| Trigonocephaly 2, 614485 (3)
| Alzheimer disease-11 (2)
| * 238300 GLYCINE DECARBOXYLASE| GLDC
| * 147660 INTERFERON, ALPHA-1| IFNA1
| Deafness, autosomal dominant 47 (2)
| Diaphyseal medullary stenosis with malignant fibrous histiocytoma (2)
| Leukemia, acute lymphoblastic (2)
| Neuropathy, distal hereditary motor, Jerash type (2)
| {Aneurysm, familial abdominal 3} (2)
| {Aneurysm, intracranial berry, 6} (2)
| {Basal cell carcinoma, susceptibility to, 5} (2)
| Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 (3)
| {Melanoma, cutaneous malignant, 2}, 155601 (3)
| Melanoma and neural system tumor syndrome, 155755 (3)
| Pancreatic cancer/melanoma syndrome, 606719 (3)
| * 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A| CDKN2A
| {Coronary heart disease, susceptibility to, 8} (2)
| Trichoepithelioma, multiple familial, 2 (2)
| {Glioma susceptibility 5} (2)
| * 156540 METHYLTHIOADENOSINE PHOSPHORYLASE| MTAP
| Venous malformations, multiple cutaneous and mucosal, 600195 (3)
| Retinitis pigmentosa 31, 609923 (3)
| Acromesomelic dysplasia, Maroteaux type, 602875 (3)
| Cartilage-hair hypoplasia, 250250 (3)
| Metaphyseal dysplasia without hypotrichosis, 250460 (3)
| Anauxetic dysplasia, 607095 (3)
| Otosclerosis 8 (2)
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)
| Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
| Spastic paraplegia 46, autosomal recessive, 614409 (3)
| Sialuria, 269921 (3)
| Inclusion body myopathy, autosomal recessive, 600737 (3)
| Nonaka myopathy, 605820 (3)
| Pontocerebellar hypoplasia, type 1B, 614678 (3)
| Arthrogryposis multiplex congenita, distal, type 1, 108120 (3)
| Arthrogryposis, distal, type 2B, 601680 (3)
| Nemaline myopathy 4, autosomal dominant, 609285 (3)
| * 190990 TROPOMYOSIN 2| TPM2
| [Blood group GIL], 607457 (3)
| [Glycerol quantitative trait locus], 614411 (3)
| Congenital disorder of glycosylation, type IId, 607091 (3)
| Galactosemia, 230400 (3)
| Craniosynostosis and dental anomalies, 614188 (3)
| {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
| Preeclampsia/eclampsia 3 (2)
| Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)
| Amyotrophic lateral sclerosis 16, juvenile, 614373 (3)
| Fanconi anemia, complementation group G, 614082 (3)
| Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3)
| Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3)
| Cerebral palsy, ataxic, autosomal recessive (2)
| ?Melkersson-Rosenthal syndrome (2)
| Chromosome 9p deletion syndrome (4)
| [High density lipoprotein cholesterol level QTL 1] (2)
| {Malignant mesothelioma, susceptibility to} (2)
| Hyperoxaluria, primary, type II, 260000 (3)
| [Hematocrit/hemoglobin quantitative trait locus 2] (2)
| Spastic paraplegia 19, autosomal dominant (2)
| * 607709 TIGHT JUNCTION PROTEIN 2| TJP2
| Cholestasis, progressive familial intrahepatic 4, 615878 (3)
| Cardiomyopathy, dilated 1B (2)
| Friedreich ataxia, 229300 (3)
| * 606829 FRATAXIN| FXN
| Geniospasm (2)
| Deafness, autosomal recessive 7, 600974 (3)
| Deafness, autosomal dominant 36, 606705 (3)
| Cataract 26, multiple types (2)
| Sturge-Weber syndrome, somatic, mosaic, 185300 (3)
| * 600998 GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE| GNAQ
| {Pelvic organ prolapse, susceptibility to, 2} (2)
| Choreoacanthocytosis, 200150 (3)
| Epilepsy, familial temporal lobe, 4 (2)
| Deafness, autosomal dominant 51 (4)
| {Osteoarthritis susceptibility 3}, 607850 (3)
| * 608135 ASPORIN| ASPN
| Hemophagocytic lymphohistiocytosis, familial, 1 (2)
| Phosphoserine aminotransferase deficiency, 610992 (3)
| Congenital disorder of glycosylation, type Ii, 607906 (3)
| * 600542 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3| NR4A3
| Bamforth-Lazarus syndrome, 241850 (3)
| {Colorectal cancer, susceptibility to, 1}, 608812 (3)
| Pseudohermaphroditism, male, with gynecomastia, 264300 (3)
| Glaucoma, primary open angle, juvenile-onset, 2 (2)
| Brachydactyly, type B1, 113000 (3)
| Robinow syndrome, autosomal recessive, 268310 (3)
| {Stature QTL 8} (2)
| Loeys-Dietz syndrome, type 1, 609192 (3)
| {Multiple self-healing squamous epithelioma, susceptiblity to}, 132800 (3)
| Hypomagnesemia 1, intestinal, 602014 (3)
| Tangier disease, 205400 (3)
| HDL deficiency, type 2, 604091 (3)
| {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
| * 607340 GAMMA-AMINOBUTYRIC ACID B RECEPTOR 2| GABBR2
| {Nicotine dependence, protection against}, 188890 (3)
| Obesity, hyperphagia, and developmental delay, 613886 (3)
| Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3)
| Thyroid hormone metabolism, abnormal, 609698 (3)
| Fructose-1,6-bisphosphatase deficiency, 229700 (3)

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