| Metadata | |
|---|---|
| ID | DOID:0110161 |
| Name | Charcot-Marie-Tooth disease type 2R |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. https://www.ncbi.nlm.nih.gov/pubmed/23562820, https://www.ncbi.nlm.nih.gov/pubmed/25893792 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive axonal Charcot-Marie-Tooth disease type 2R [EXACT] Charcot-Marie-Tooth neuropathy type 2R [EXACT] CMT2R [EXACT] |
| Parent Relationships |