Metadata | |
---|---|
ID | DOID:0110149 |
Name | Charcot-Marie-Tooth disease type 1F |
Definition | A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. https://www.ncbi.nlm.nih.gov/pubmed/12566280 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
Charcot-Marie-Tooth neuropathy type 1F [EXACT] CMT1F [EXACT] |
Parent Relationships |
is_a autosomal recessive disease |