Disease association ontology term - MONDO:0033653 - mitochondrial complex IV deficiency, nuclear type 18
Term summary
- ID
- MONDO:0033653
- Name
- mitochondrial complex IV deficiency, nuclear type 18
- Ontology or CV name
- Disease association
- Definition
- Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX6A2 gene.