Disease association ontology term - MONDO:0014190 - combined oxidative phosphorylation defect type 17
Term summary
- ID
- MONDO:0014190
- Name
- combined oxidative phosphorylation defect type 17
- Ontology or CV name
- Disease association
- Definition
- Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.