Visualize Submit Comment
Metadata
ID DOID:0110162
Name Charcot-Marie-Tooth disease, axonal type 2W
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31.
https://www.ncbi.nlm.nih.gov/pubmed/22930593
Xrefs

OMIM:616625

Synonyms

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

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

CMT2W [EXACT]

Parent Relationships

is_a Charcot-Marie-Tooth disease type 2

Add an item to the term tracker