autosomal dominant Charcot-Marie-Tooth disease type 2M
Also known as: CMT2M
Additional Disease Briefs
autosomal dominant Charcot-Marie-Tooth disease type 2W
Also known as: CMT2W, Charcot-Marie-Tooth disease type 2 caused by mutation in HARS, Charcot-Marie-Tooth disease, axonal type 2W, Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W, Charcot-Marie-Tooth disease, axonal, type 2W, Charcot-Marie-Tooth disease, axonal, type 2w, Charcot-Marie-Tooth neuropathy type 2W, Charcot-Marie-Tooth neuropathy, type 2W, HARS Charcot-Marie-Tooth disease type 2, autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation, autosomal dominant axonal Charcot-Marie-Tooth disease type 2W
autosomal dominant childhood-onset proximal spinal muscular atrophy
Also known as: SMALED, lower extremity-predominant autosomal dominant proximal spinal muscular atrophy, spinal muscular atrophy, lower extremity-predominant
autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Also known as: Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures, SMALED2, autosomal dominant spinal muscular atrophy, lower extremity-predominant 2, spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant, spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant, spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Also known as: Kugelberg-Welander syndrome, autosomal dominant, Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures, SMALED1, Sma-led, spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant, spinal muscular atrophy, childhood, proximal, autosomal dominant, spinal muscular atrophy, juvenile, proximal, autosomal dominant, spinal muscular atrophy, lower extremity-predominant 1, AD
autosomal dominant chondrodysplasia punctata
Also known as: chondrodysplasia punctata Sheffield type, chondrodysplasia punctata due to vitamin K deficiency, chondrodysplasia punctata due to warfarin teratogenicity, chondrodysplasia punctata, Sheffield type, chondrodysplasia punctata, autosomal dominant
autosomal dominant coarctation of aorta
Also known as: aorta coarctation, autosomal dominant, autosomal dominant aorta coarctation
autosomal dominant cutis laxa
Also known as: ADCL, cutis laxa, autosomal dominant
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
