Charcot-Marie-Tooth disease X-linked dominant 6

Summary

DOID:0110207 - Charcot-Marie-Tooth disease X-linked dominant 6

Disease Ontology Definition:A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22.

Synonyms: Charcot-Marie-Tooth neuropathy X-linked dominant 6, CMT6X, CMTX6, X-linked Charcot-Marie-Tooth disease type 6

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

: pdk3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010479 - Charcot-Marie-Tooth disease X-linked dominant 6

MONDO:0010479 - Charcot-Marie-Tooth disease X-linked dominant 6

MIM:

MIM:300905 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6; CMTX6

MIM:300905 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6; CMTX6

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

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

Parent(s): Charcot-Marie-Tooth disease type X (is_a), X-linked dominant disease (is_a)