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Metadata
ID DOID:0110163
Name Charcot-Marie-Tooth disease axonal type 2F
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1).
https://www.ncbi.nlm.nih.gov/pubmed/15122254
Xrefs

ICD10CM:G60.0

OMIM:606595

ORDO:99940

Synonyms

autosomal dominant Charcot-Marie-Tooth disease type 2F [EXACT]

Charcot-Marie-Tooth neuronal type 2F [EXACT]

Charcot-Marie-Tooth neuropathy type 2F [EXACT]

CMT2F [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a Charcot-Marie-Tooth disease type 2

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