| Term Name: | combined oxidative phosphorylation deficiency 50 |
|---|---|
| Synonyms: | COXPD50 |
| Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1. |
| Ontology: | Human Disease [DOID:0112111] ( DOID:0112111 ) |