Term Name: Charcot-Marie-Tooth disease axonal type 2Q
Synonyms: autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q, autosomal dominant Charcot-Marie-Tooth disease type 2Q, Charcot-Marie-Tooth neuropathy type 2Q, CMT2Q
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.
Ontology: Human Disease [DOID:0110170]   ( DOID:0110170 )

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