Disease association ontology term - MONDO:0013580 - pyruvate dehydrogenase E1-beta deficiency
Term summary
- ID
- MONDO:0013580
- Name
- pyruvate dehydrogenase E1-beta deficiency
- Ontology or CV name
- Disease association
- Definition
- Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.
