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Metadata
ID DOID:0110196
Name Charcot-Marie-Tooth disease type 4G
Definition A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22.
https://www.ncbi.nlm.nih.gov/pubmed/19536174
Xrefs

ICD10CM:G60.0

MIM:605285

ORDO:99953

Subsets

DO_rare_slim

Synonyms

autosomal recessive Charcot-Marie-Tooth disease type 4G [EXACT]

Charcot-Marie-Tooth neuropathy type 4G [EXACT]

CMT4G [EXACT]

hereditary motor and sensory neuropathy Russe type [EXACT]

HMSNR [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a Charcot-Marie-Tooth disease type 4

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