| Metadata | |
|---|---|
| ID | DOID:0110175 |
| Name | Charcot-Marie-Tooth disease axonal type 2O |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/21820100 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant axonal Charcot-Marie-Tooth disease type 2O [EXACT] autosomal dominant Charcot-Marie-Tooth disease type 2O [EXACT] Charcot-Marie-Tooth neuropathy axonal type 2O [EXACT] |
| Parent Relationships |