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Metadata
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

ICD10CM:G60.0

MESH:C564257

OMIM:608323

ORDO:100045

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

is_a autosomal dominant disease

is_a Charcot-Marie-Tooth disease intermediate type

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