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Metadata
ID DOID:0110206
Name Charcot-Marie-Tooth disease dominant intermediate F
Definition A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28.
https://www.ncbi.nlm.nih.gov/pubmed/23434117
Xrefs

ICD10CM:G60.0

OMIM:615185

ORDO:352670

Subsets

DO_rare_slim

Synonyms

autosomal dominant intermediate Charcot-Marie-Tooth disease type F [EXACT]

CMTDIF [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a Charcot-Marie-Tooth disease intermediate type

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