| Term Name: | combined oxidative phosphorylation deficiency 26 |
|---|---|
| Synonyms: | COXPD26 |
| Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1. |
| Ontology: | Human Disease [DOID:0111490] ( DOID:0111490 ) |