Disease association ontology term - MONDO:0015448 - mitochondrial complex III deficiency
Term summary
- ID
- MONDO:0015448
- Name
- mitochondrial complex III deficiency
- Ontology or CV name
- Disease association
- Definition
- A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).
