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Metadata
ID DOID:0110198
Name Charcot-Marie-Tooth disease recessive intermediate C
Definition A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.
https://www.ncbi.nlm.nih.gov/pubmed/23777631
Xrefs

ICD10CM:G60.0

OMIM:615376

ORDO:369867

Subsets

DO_rare_slim

Synonyms

autosomal recessive intermediate Charcot-Marie-Tooth disease type C [EXACT]

CMTRIC [EXACT]

RI-CMT type C [EXACT]

RI-CMTC [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a Charcot-Marie-Tooth disease intermediate type

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