Additional Disease Briefs

autosomal dominant deafness – onychodystrophy syndrome

Also known as: DDOD, DDOD syndrome, Ddod syndrome, Robinson Miller Bensimon syndrome, Robinson-Miller-Bensimon syndrome, autosomal dominant deafness-onychodystrophy syndrome, deafness and onychodystrophy, dominant form, deafness, congenital, and onychodystrophy, autosomal dominant, deafness, congenital, with onychodystrophy, autosomal dominant, deafness-onychodystrophy syndrome, autosomal dominant, familial ectodermal dysplasia with sensori-neural deafness and other anomaliesDDOD, DDOD syndrome, Ddod syndrome, Robinson Miller Bensimon syndrome, Robinson-Miller-Bensimon syndrome, autosomal dominant deafness-onychodystrophy syndrome, deafness and onychodystrophy, dominant form, deafness, congenital, and onychodystrophy, autosomal dominant, deafness, congenital, with onychodystrophy, autosomal dominant, deafness-onychodystrophy syndrome, autosomal dominant, familial ectodermal dysplasia with sensori-neural deafness and other anomalies

autosomal dominant deafness – onychodystrophy syndrome

Also known as: DDOD, DDOD syndrome, Ddod syndrome, Robinson Miller Bensimon syndrome, Robinson-Miller-Bensimon syndrome, autosomal dominant deafness-onychodystrophy syndrome, deafness and onychodystrophy, dominant form, deafness, congenital, and onychodystrophy, autosomal dominant, deafness, congenital, with onychodystrophy, autosomal dominant, deafness-onychodystrophy syndrome, autosomal dominant, familial ectodermal dysplasia with sensori-neural deafness and other anomalies

autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

autosomal dominant distal renal tubular acidosis

Also known as: AD dRTA, RTA, classic type, RTA, distal type, autosomal dominant, RTA, gradient type, autosomal dominant SLC4A1-associated distal renal tubular acidosis, autosomal dominant distal renal tubular acidosis (disease), distal renal tubular acidosis (disease), autosomal dominant, distal renal tubular acidosis 1, renal tubular acidosis 1, renal tubular acidosis, distal, autosomal dominant

autosomal dominant Emery-Dreifuss muscular dystrophy

Also known as: EDMD2, Emery-Dreifuss muscular dystrophy, autosomal dominant, autosomal dominant Emery-Dreifuss muscular dystrophy

autosomal dominant epilepsy with auditory features

Also known as: ADEAF, ADLTE, ADPEAF, Autosomal dominant epilepsy with auditory features, adolescent/adult onset autosomal dominant epilepsy with auditory features, autosomal dominant epilepsy with auditory features, autosomal dominant lateral temporal lobe epilepsy, autosomal dominant partial epilepsy with auditory features, autosomal dominant partial/lateral temporal epilepsy with auditory features, partial epilepsy with auditory aura, partial epilepsy with auditory features

autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Also known as: HANAC, HANAC syndrome, angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome, hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Also known as: autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, dominant KATP hyperinsulinism due to Kir6.2 deficiency

autosomal dominant hyperinsulinism due to SUR1 deficiency

Also known as: autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency