Visualize Submit Comment
Metadata
ID DOID:0110171
Name Charcot-Marie-Tooth disease axonal type 2S
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
https://www.ncbi.nlm.nih.gov/pubmed/25439726
Xrefs

OMIM:616155

ORDO:443073

Subsets

DO_rare_slim

Synonyms

autosomal recessive axonal Charcot-Marie-Tooth type 2S [EXACT]

Charcot-Marie-Tooth disease type 2S [EXACT]

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

CMT2S [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a Charcot-Marie-Tooth disease type 2

Add an item to the term tracker