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Summary Literature (0)
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 : vcp

Mondo Disease Ontology (on Monarch Initiative):
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)