Charcot-Marie-Tooth disease type 2Y

Summary

DOID:0110168 - Charcot-Marie-Tooth disease type 2Y

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13.

Synonyms: CMT2 due to VCP mutation, CMT2Y, Charcot-Marie-Tooth neuropathy type 2Y, autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation, autosomal dominant axonal Charcot-Marie-Tooth type 2Y,

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

: vcp

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014735 - Charcot-Marie-Tooth disease type 2Y

MONDO:0014735 - Charcot-Marie-Tooth disease type 2Y

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

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

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