Term Name: Charcot-Marie-Tooth disease axonal type 2C
Synonyms: autosomal cominant axonal Charcot-Marie-Tooth disease type 2C, autosomal dominant Charcot-Marie-Tooth disease type 2C, Charcot-Marie-Tooth neuropathy type 2C, CMT2C, hereditary motor and sensory neuropathy type IIc, HMSN2C
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.
Ontology: Human Disease [DOID:0110182]   ( DOID:0110182 )

Relationships
is a type of: autosomal dominant disease Charcot-Marie-Tooth disease type 2