| Metadata | |
|---|---|
| ID | DOID:0110203 |
| Name | Charcot-Marie-Tooth disease recessive intermediate D |
| Definition | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/25152455 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive intermediate Charcot-Marie-Tooth disease type D [EXACT] CMTRID [EXACT] RI-CMT type D [EXACT] |
| Parent Relationships |