Term Name: Charcot-Marie-Tooth disease X-linked dominant 1
Synonyms: Charcot-Marie-Tooth neuropathy X-linked dominant 1, CMT1X, CMTX1, X-linked Charcot-Marie-Tooth disease type 1
Definition: A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.
Ontology: Human Disease [DOID:0110209]   ( DOID:0110209 )

Relationships
is a type of: Charcot-Marie-Tooth disease type X X-linked dominant disease