Disease Index
9,486 diseasesautosomal dominant cerebellar ataxia, deafness and narcolepsy
Human disease
autosomal dominant Charcot-Marie-tooth disease type 2 due to KIF5A mutation
autosomal dominant Charcot-Marie-tooth disease type 2 due to TFG mutation
human disease
autosomal dominant Charcot-Marie-tooth disease type 2K
Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy
autosomal dominant Charcot-Marie-tooth disease type 2M
autosomal dominant childhood-onset proximal spinal muscular atrophy
human disease
autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
human disease
autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
human disease
MeSH: C563560
autosomal dominant chondrodysplasia punctata
Human disease
MeSH: C563248
autosomal dominant complex spastic paraplegia
Autosomal dominant form of complex hereditary spastic paraplegia
autosomal dominant complex spastic paraplegia type 9B
human disease
autosomal dominant congenital benign spinal muscular atrophy
MeSH: C563981
autosomal dominant craniometaphyseal dysplasia
human disease
autosomal dominant cutis laxa
cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity
MeSH: C562627
autosomal dominant deafness-onychodystrophy syndrome
Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges
autosomal dominant diffuse mutilating palmoplantar keratoderma
human disease
autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature
autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
human disease
autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature
autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
human disease
autosomal dominant distal hereditary motor neuropathy
Autosomal dominant form of distal hereditary motor neuropathy
autosomal dominant distal myopathy
Autosomal dominant form of distal myopathy
autosomal dominant Emery-Dreifuss muscular dystrophy
autosomal dominant Emery-Dreifuss muscular dystrophy 2
Emery-Dreifuss muscular dystrophy that has material basis in an autosomal dominant mutation of LMNA on chromosome 1q22
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
medical condition
MeSH: C567088
autosomal dominant familial periodic fever
human disease
MeSH: C536657
autosomal dominant hereditary axonal motor and sensory neuropathy
human disease
autosomal dominant hereditary demyelinating motor and sensory neuropathy
human disease
autosomal dominant hereditary sensory and autonomic neuropathy
Autosomal dominant form of hereditary sensory and autonomic neuropathy
autosomal dominant hyperinsulinism due to Kir6.2 deficiency