| Metadata | |
|---|---|
| ID | DOID:0110173 |
| Name | Charcot-Marie-Tooth disease axonal type 2U |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/23729695 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant axonal Charcot-Marie-Tooth disease type 2U [EXACT] autosomal dominant Charcot-Marie-Tooth disease type 2U [EXACT] Charcot-Marie-Tooth neuropathy type 2U [EXACT] CMT2U [EXACT] |
| Parent Relationships |