| Metadata | |
|---|---|
| ID | DOID:0110174 |
| Name | Charcot-Marie-Tooth disease axonal type 2L |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. https://www.ncbi.nlm.nih.gov/pubmed/15565283 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant axonal Charcot-Marie-Tooth disease type 2L [EXACT] autosomal dominant Charcot-Marie-Tooth disease type 2L [EXACT] Charcot-Marie-Tooth neuropathy axonal type 2L [EXACT] CMT2L [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |