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Metadata
ID DOID:0110203
Name Charcot-Marie-Tooth disease recessive intermediate D
Definition A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24.
https://www.ncbi.nlm.nih.gov/pubmed/25152455
Xrefs

ICD10CM:G60.0

OMIM:616039

ORDO:435998

Subsets

DO_rare_slim

Synonyms

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

CMTRID [EXACT]

RI-CMT type D [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a Charcot-Marie-Tooth disease intermediate type

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