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 | |
Subsets |
DO_rare_slim |
Synonyms |
CMT4F [EXACT] |
Parent Relationships |