OBO ID: DOID:0050573
Term Name: 2-hydroxyglutaric aciduria Search Ontology:
Synonyms:
Definition: An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. (2)
References:
Ontology: Human Disease   (DOID:0050573)
OTHER 2-hydroxyglutaric aciduria PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None