Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.
MONDO:0018994
Charcot-Marie-Tooth disease type X
is_a
CMT1X
exact
CMT2
exact
CMT2, formerly
exact
CMTX
exact
CMTX 1
exact
CMTX1
exact
Charcot Marie Tooth disease X-linked 1
exact
Charcot-Marie-Tooth disease X-linked dominant 1
exact
Charcot-Marie-Tooth disease X-linked dominant type 1
exact
Charcot-Marie-Tooth disease type X caused by mutation in GJB1
exact
Charcot-Marie-Tooth disease, X-linked dominant, 1
exact
Charcot-Marie-Tooth disease, X-linked dominant, type 1
exact
Charcot-Marie-Tooth disease, X-linked, 1
exact
Charcot-Marie-Tooth neuropathy X type 1
exact
Charcot-Marie-Tooth neuropathy, X-linked, 1
exact
Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined
exact
Charcot-Marie-Tooth peroneal muscular atrophy, X-linked
exact
GJB1 Charcot-Marie-Tooth disease type X
exact
HMSN, X-linked
exact
X-linked Charcot-Marie-Tooth disease type 1
exact
hereditary motor and sensory neuropathy, X-linked
exact