Visualize Submit Comment
Metadata
ID DOID:0110193
Name Charcot-Marie-Tooth disease type 4F
Definition A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13.
https://www.ncbi.nlm.nih.gov/pubmed/11157804
Xrefs

ICD10CM:G60.0

OMIM:614895

ORDO:99952

Subsets

DO_rare_slim

Synonyms

CMT4F [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a Charcot-Marie-Tooth disease type 4

Add an item to the term tracker