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Metadata
ID DOID:0110149
Name Charcot-Marie-Tooth disease type 1F
Definition A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene.
https://www.ncbi.nlm.nih.gov/pubmed/12566280
Xrefs

ICD10CM:G60.0

OMIM:607734

ORDO:101085

Subsets

DO_rare_slim

Synonyms

Charcot-Marie-Tooth neuropathy type 1F [EXACT]

CMT1F [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a autosomal dominant disease

is_a Charcot-Marie-Tooth disease type 1

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