Disease association ontology term - MONDO:0012120 - pyruvate dehydrogenase phosphatase deficiency
Term summary
- ID
- MONDO:0012120
- Name
- pyruvate dehydrogenase phosphatase deficiency
- Ontology or CV name
- Disease association
- Definition
- Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.
