| Term Name: | combined oxidative phosphorylation deficiency 25 |
|---|---|
| Synonyms: | COXPD25 |
| Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1. |
| Ontology: | Human Disease [DOID:0111468] ( DOID:0111468 ) |