OBO ID: DOID:0050575
Term Name: D-2-hydroxyglutaric aciduria Search Ontology:
Synonyms:
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. http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria
References:
Ontology: Human Disease   (DOID:0050575)
OTHER D-2-hydroxyglutaric aciduria PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None