Summary Literature (0)

DOID:0110170 - Charcot-Marie-Tooth disease axonal type 2Q

Disease Ontology 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.

Synonyms: CMT2Q, Charcot-Marie-Tooth neuropathy type 2Q, autosomal dominant Charcot-Marie-Tooth disease type 2Q, autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q,

Echinobase Genes : dhtkd1


OMIM:

MIM:615025 - charcot-marie-tooth disease, axonal, type 2q; cmt2q

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee