Ontological Term Details

Compound
CDB005137 (2-Hydroxyglutarate)
Term
D-2-hydroxyglutaric aciduria
Definition
An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. (do).
Parent Term
Health condition
Parent Definition
A health effect that consists on short or long-term disease, condition, disorder, syndrome or constant abnormality.
Synonyms
  • 2-hydroxyglutaric aciduria (d)
  • D2hga
  • D2hga1
  • Other Compounds Mapped to 'D-2-hydroxyglutaric aciduria'
  • CDB000120 (Lysine)
  • CDB004802 (gamma-Aminobutyric acid)
  • CDB004849 (D-2-Hydroxyglutaric acid)
  • CDB005137 (2-Hydroxyglutarate)
  • References