Disease association ontology term - MONDO:0014471 - mitochondrial proton-transporting ATP synthase complex deficiency
Term summary
- ID
- MONDO:0014471
- Name
- mitochondrial proton-transporting ATP synthase complex deficiency
- Ontology or CV name
- Disease association
- Definition
- A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).
