Visualize Submit Comment

Metadata
ID	DOID:0110158
Name	Charcot-Marie-Tooth disease type 2I
Definition	A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. https://www.ncbi.nlm.nih.gov/pubmed/10071056
Xrefs	ICD10CM:G60.0 MESH:C535416 MIM:607677 ORDO:99942
Subsets	DO_rare_slim
Synonyms	Charcot-Marie-Tooth neuropathy type 2I [EXACT] CMT2I [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a Charcot-Marie-Tooth disease type 2