Disease association ontology term - MONDO:0012512 - fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Term summary
- ID
- MONDO:0012512
- Name
- fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- Ontology or CV name
- Disease association
- Definition
- Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
