omimdefinitions

| {SARS, progression of} (3)
| Renal tubular dysgenesis, 267430 (3)
| {Stroke, hemorrhagic}, 614519 (3)
| {Bone size QTL} (2)
| Retinitis pigmentosa 17, 600852 (3)
| Agammaglobulinemia 6, 612692 (3)
| Meckel syndrome 1, 249000 (3)
| * 609883 MKS1 GENE| MKS1
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)
| Carney complex, type 1, 160980 (3)
| Myxoma, intracardiac, 255960 (3)
| * 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA| PRKAR1A
| Pigmented nodular adrenocortical disease, primary, 1, 610489 (3)
| Adrenocortical tumor, somatic, (3)
| Acrodysostosis 1, with or without hormone resistance, 101800 (3)
| Bradyopsia, 608415 (3)
| Eosinophil peroxidase deficiency, 261500 (3)
| Myeloperoxidase deficiency, 254600 (3)
| * 606989 MYELOPEROXIDASE| MPO
| {Lung cancer, protection against, in smokers} (3)
| Chromosome 17q23.1-q23.2 deletion syndrome (4)
| Chromosome 17q23.1-q23.2 duplication syndrome (4)
| Andersen syndrome, 170390 (3)
| Short QT syndrome 3, 609622 (3)
| Atrial fibrillation, familial, 9, 613980 (3)
| Hyperkalemic periodic paralysis, type 2, 170500 (3)
| Paramyotonia congenita, 168300 (3)
| Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)
| Myasthenic syndrome, acetazolamide-responsive, 614198 (3)
| Hypokalemic periodic paralysis, type 2, 613345 (3)
| [Body mass index QTL 15] (2)
| Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3)
| Oligodontia-colorectal cancer syndrome, 608615 (3)
| * 604025 AXIS INHIBITOR 2| AXIN2
| Cataract 7 (2)
| Galactokinase deficiency with cataracts, 230200 (3)
| Usher syndrome, type 1G, 606943 (3)
| Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3)
| Hypertrichosis terminalis, generalized, with or without gingival hyperplasia (4)
| 46XX sex reversal 2 (4)
| Pierre Robin syndrome (2)
| Campomelic dysplasia with autosomal sex reversal, 114290 (3)
| * 608160 SRY-BOX 9| SOX9
| Campomelic dysplasia, 114290 (3)
| {Delayed sleep phase syndrome, susceptibility to}, 614163 (3)
| Alveolar soft-part sarcoma, 606243 (3)
| 46XY sex reversal 5, 613080 (3)
| Advanced sleep-phase syndrome, familial, 2, 615224 (3)
| Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
| Epidermodysplasia verruciformis, 226400 (3)
| Retinitis pigmentosa 30, 607921 (3)
| * 138033 GLUCAGON RECEPTOR| GCGR
| Retinitis pigmentosa 57, 613582 (3)
| {Moyamoya disease 2, susceptibility to}, 607151 (3)
| * 604061 SEPTIN 9| SEPT9
| Ovarian carcinoma (1)
| Amyotrophy, hereditary neuralgic, 162100 (3)
| * 605828 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 6| TMC6
| Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
| Congenital disorder of glycosylation, type IIg, 611209 (3)
| Nail disorder, nonsyndromic congenital, 9 (2)
| Tylosis with esophageal cancer, 148500 (3)
| Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3)
| Pontocerebellar hypoplasia type 2A, 277470 (3)
| Pontocerebellar hypoplasia type 4, 225753 (3)
| Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
| Glycogen storage disease II, 232300 (3)
| Deafness, autosomal dominant 20/26, 604717 (3)
| Baraitser-Winter syndrome 2, 614583 (3)
| ?Nephrotic syndrome, type 8, 615244 (3)
| {Dermatitis, atopic, susceptibility to, 4} (2)
| Desbuquois dysplasia, 251450 (3)
| {Psoriasis susceptibility 2}, 602723 (3)
| Pityriasis rubra pilaris, 173200 (3)
| Ciliary dyskinesia, primary, 15, 613808 (3)
| [Pentosuria], 260800 (3)
| Robin sequence with cleft mandible and limb anomalies, 268305 (3)
| Cutis laxa, autosomal recessive, type IIB, 612940 (3)
| Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
| Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)
| Microcephaly, Amish type, 607196 (3)
| Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
| Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)
| {Opioid dependence, susceptibility to, 1} (2)
| Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
| Deafness, autosomal recessive 46 (2)
| Myopia-2 (2)
| * 600532 NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 2| NDUFV2
| Porokeratosis 6 (2)
| Mental retardation, autosomal recessive 19 (2)
| Holoprosencephaly-4, 142946 (3)
| Alopecia areata 1 (2)
| Stuttering, familial persistent 1 (2)
| {Psoriasis susceptibility 10} (3)
| Anosmia, isolated congenital (2)
| Arthrogryposis, distal, type 5, 108145 (3)
| Arthrogryposis, distal, type 3, 114300 (3)
| ?Marden-Walker syndrome, 248700 (3)
| Dystonia 25, 615073 (3)
| {Dyslexia, susceptibility to, 6} (2)

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