Visualize Submit Comment

Metadata
ID	DOID:0110194
Name	Charcot-Marie-Tooth disease type 4B3
Definition	A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. https://www.ncbi.nlm.nih.gov/pubmed/23749797
Xrefs	ICD10CM:G60.0 MIM:615284 ORDO:363981
Subsets	DO_rare_slim
Synonyms	CMT4B3 [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a Charcot-Marie-Tooth disease type 4