Term Name: | Charcot-Marie-Tooth disease type 2Y |
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Synonyms: | autosomal dominant axonal Charcot-Marie-Tooth type 2Y, autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation, Charcot-Marie-Tooth neuropathy type 2Y, CMT2 due to VCP mutation, CMT2Y |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13. |
Ontology: | Human Disease [DOID:0110168] ( DOID:0110168 ) |