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Charcot-Marie-Tooth disease

Disease Summary
Associated Targets (227)
Tbio

162

Tchem

37

Tclin

27

Tdark

1


GARD Rare
Mondo Description An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.
Disease Ontology Description A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
Mondo Term and Equivalent IDs
MONDO:0015626:  Charcot-Marie-Tooth disease
GARD:0006034: 
MESH:D002607: 
NCIT:C75467: 
OMIMPS:118220: 
Orphanet:166: 
UMLS:C0007959: