Visualize Submit Comment

Metadata
ID	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
Xrefs	MIM:616924
Synonyms	Charcot-Marie-Tooth neuropathy type 2CC [EXACT] CMT2CC [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a Charcot-Marie-Tooth disease type 2