Charcot-Marie-Tooth disease axonal type 2Q

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dhtkd1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014012 - Charcot-Marie-Tooth disease axonal type 2Q

MONDO:0014012 - Charcot-Marie-Tooth disease axonal type 2Q

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

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

Parent(s): autosomal dominant disease (is_a), Charcot-Marie-Tooth disease type 2 (is_a)