Disease association ontology term - MONDO:0016001 - 2-hydroxyglutaric aciduria
Term summary
- ID
- MONDO:0016001
- Name
- 2-hydroxyglutaric aciduria
- Ontology or CV name
- Disease association
- Definition
- 2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.
