| Metadata | |
|---|---|
| ID | DOID:0110163 |
| Name | Charcot-Marie-Tooth disease axonal type 2F |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1). https://www.ncbi.nlm.nih.gov/pubmed/15122254 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant Charcot-Marie-Tooth disease type 2F [EXACT] Charcot-Marie-Tooth neuronal type 2F [EXACT] Charcot-Marie-Tooth neuropathy type 2F [EXACT] CMT2F [EXACT] |
| Parent Relationships |