Term Name: Charcot-Marie-Tooth disease axonal type 2CC
Synonyms: Charcot-Marie-Tooth neuropathy type 2CC, CMT2CC
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12.
Ontology: Human Disease [DOID:0110180]   ( DOID:0110180 )

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