Disease association ontology term - MONDO:0009706 - hereditary myopathy with lactic acidosis due to ISCU deficiency
Term summary
- ID
- MONDO:0009706
- Name
- hereditary myopathy with lactic acidosis due to ISCU deficiency
- Ontology or CV name
- Disease association
- Definition
- Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
