Metadata | |
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ID | DOID:0110199 |
Name | Charcot-Marie-Tooth disease dominant intermediate C |
Definition | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. https://www.ncbi.nlm.nih.gov/pubmed/16429158 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal dominant intermediate Charcot-Marie-Tooth disease type C [EXACT] Charcot-Marie-Tooth neuropathy dominant intermediate C [EXACT] CMTDIC [EXACT] DI-CMTC [EXACT] |
Parent Relationships |