Metadata | |
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ID | DOID:0110168 |
Name | Charcot-Marie-Tooth disease type 2Y |
Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13. https://www.ncbi.nlm.nih.gov/pubmed/25125609 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal dominant axonal Charcot-Marie-Tooth type 2Y [EXACT] autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation [EXACT] Charcot-Marie-Tooth neuropathy type 2Y [EXACT] CMT2 due to VCP mutation [EXACT] CMT2Y [EXACT] |
Parent Relationships |