| Term Name: | combined oxidative phosphorylation deficiency 20 |
|---|---|
| Synonyms: | COXPD20 |
| Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. |
| Ontology: | Human Disease [DOID:0111478] ( DOID:0111478 ) |