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Metadata
DOID DOID:0110180
Name Charcot-Marie-Tooth disease axonal type 2CC
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12.
https://www.ncbi.nlm.nih.gov/pubmed/27040688
Synonyms

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

CMT2CC [EXACT]

Xrefs

OMIM:616924

Relationships

is_a Charcot-Marie-Tooth disease type 2

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