You are using an outdated browser. Please upgrade your browser to improve your experience.

Charcot-Marie-Tooth disease type X

Disease Summary
Associated Targets (4)
Tbio

3

Tchem

1


GARD Rare
Mondo Description A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome.
Disease Ontology Description A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.
Mondo Term and Equivalent IDs
MONDO:0018994:  Charcot-Marie-Tooth disease type X
GARD:0012444: 
Orphanet:64747: 
SCTID:230552007: 
UMLS:CN205436: