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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,
Echinobase Genes
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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)