Term Name: Charcot-Marie-Tooth disease axonal type 2V
Synonyms: autosomal dominant axonal Charcot-Marie-Tooth disease type 2V, autosomal dominant Charcot-Marie-Tooth disease type 2V, Charcot-Marie-Tooth neuropathy type 2V, CMT2V
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.
Ontology: Human Disease [DOID:0110178]   ( DOID:0110178 )

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