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
Additional Disease Briefs
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
autosomal dominant nocturnal frontal lobe epilepsy 1
Also known as: CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy, ENFL1, autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4, autosomal dominant nocturnal frontal lobe epilepsy type 1, epilepsy, nocturnal frontal lobe, 1, epilepsy, nocturnal frontal lobe, type 1, nocturnal frontal lobe epilepsy 1
autosomal dominant nocturnal frontal lobe epilepsy 2
Also known as: ENFL2, autosomal dominant nocturnal frontal lobe epilepsy type 2, epilepsy, nocturnal frontal lobe, 2, epilepsy, nocturnal frontal lobe, type 2, nocturnal frontal lobe epilepsy 2
