Visualize Submit Comment
Metadata
ID DOID:0110190
Name Charcot-Marie-Tooth disease type 4B2
Definition A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene.
https://www.ncbi.nlm.nih.gov/pubmed/12554688
Xrefs

GARD:9200

ICD10CM:G60.0

OMIM:604563

ORDO:99956

Synonyms

autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2 [EXACT]

Charcot-Marie-Tooth neuropathy type 4B2 [EXACT]

CMT4B2 [EXACT]

Parent Relationships

is_a Charcot-Marie-Tooth disease type 4

Add an item to the term tracker