Additional Disease Briefs

autosomal dominant limb-girdle muscular dystrophy type 1F

Also known as: LGMD1F, limb-girdle muscular dystrophy type 1F, muscular dystrophy limb-girdle type 1F, muscular dystrophy, limb-girdle, autosomal dominant 2, muscular dystrophy, limb-girdle, type 1F

autosomal dominant limb-girdle muscular dystrophy type 1G

Also known as: HNRNPDL autosomal dominant limb-girdle muscular dystrophy, LGMD1G, autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL, limb-girdle muscular dystrophy type 1G, limb-girdle muscular dystrophy, type 1G, muscular dystrophy limb-girdle type 1G, muscular dystrophy, limb-girdle, autosomal dominant 3

autosomal dominant limb-girdle muscular dystrophy type 1H

Also known as: LGMD1H, limb-girdle muscular dystrophy type 1H, muscular dystrophy limb-girdle type 1H, muscular dystrophy, limb-girdle, type 1H

autosomal dominant macrothrombocytopenia

autosomal dominant medullary cystic kidney disease with or without hyperuricemia

Also known as: ADTKD, MCKD, autosomal dominant interstitial kidney disease, autosomal dominant medullary cystic kidney disease, autosomal dominant medullary cystic kidney disease with or without hyperuricemia, autosomal dominant tubulointerstitial kidney disease, medullary cystic disease, medullary cystic kidney disease, polycystic kidneys, medullary type

autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Also known as: IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency, IFNGR1 deficiency, autosomal dominant, IMD27B, autosomal dominant MSMD due to partial IFNgammaR1 deficiency, autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency, autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1, autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency, immunodeficiency 27B, immunodeficiency 27B, Mycobacteriosis, autosomal dominant, immunodeficiency 27B, mycobacteriosis, AD, immunodeficiency type 27B

autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Also known as: IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant MSMD due to partial IFNgammaR2 deficiency, autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency, autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2, autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency

autosomal dominant mitochondrial myopathy with exercise intolerance

Also known as: IMMD, myopathy, isolated mitochondrial, autosomal dominant

autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

autosomal dominant nocturnal frontal lobe epilepsy

Also known as: ADNFLE, ENFL