autosomal dominant aplasia and myelodysplasia
Also known as: BMFS1, autosomal dominant aplastic anaemia and myelodysplasia, autosomal dominant aplastic anemia and myelodysplasia, bone marrow failure syndrome 1, bone marrow failure syndrome type 1
Additional Disease Briefs
autosomal dominant auditory neuropathy 1
Also known as: AUNA1, DIAPH3 auditory neuropathy, NSDAN, auditory neuropathy caused by mutation in DIAPH3, auditory neuropathy, autosomal dominant, 1, auditory neuropathy, autosomal dominant, type 1, auditory neuropathy, nonsyndromic dominant, autosomal dominant auditory neuropathy type 1, nonsyndromic dominant auditory neuropathy
autosomal dominant brachyolmia
autosomal dominant centronuclear myopathy
Also known as: AD-CNM, CNM1, CNM3, DNM2-related centronuclear myopathy, autosomal dominant centronuclear myopathy, autosomal dominant centronuclear myopathy caused by mutation in MYF6, centronuclear myopathy 1, centronuclear myopathy, autosomal dominant, centronuclear myopathy, autosomal, modifier of, myopathy, centronuclear, 1, myopathy, centronuclear, 3, myopathy, centronuclear, autosomal dominant, myopathy, centronuclear, type 1, myopathy, centronuclear, type 3, myotubular myopathy, autosomal dominant
autosomal dominant cerebellar ataxia type I
Also known as: ADCA1, ADCAI, autosomal dominant cerebellar ataxia type 1, cerebellar plus syndrome
autosomal dominant cerebellar ataxia type II
Also known as: ADCA, type II, ADCA2, ADCAII, ATXN7 autosomal dominant cerebellar ataxia type II, Adca, type 2, OPCA 3, OPCA III, OPCA with macular Degeneration and external ophthalmoplegia, OPCA with retinal Degeneration, OPCA3, SCA7, ataxia with pigmentary retinopathy, autosomal dominant cerebellar ataxia type 2, autosomal dominant cerebellar ataxia type II, autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7, autosomal dominant cerebellar ataxia, type 2, cerebellar syndrome-pigmentary maculopathy syndrome, olivopontocerebellar atrophy 3, spinocerebellar ataxia 7, spinocerebellar ataxia type 7
autosomal dominant cerebellar ataxia type III
Also known as: ADCA3, ADCAIII, Pure cerebellar syndrome-mild pyramidal signs syndrome, autosomal dominant cerebellar ataxia type 3, autosomal dominant cerebellar ataxia type III
autosomal dominant cerebellar ataxia, deafness and narcolepsy
Also known as: ADCA-DN, ADCA-DN syndrome, ADCADN, autosomal dominant cerebellar ataxia, deafness and narcolepsy, autosomal dominant cerebellar ataxia, deafness, and narcolepsy, autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome, cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation
Also known as: CMT2 due to DGAT2 mutation