OBO ID: DOID:0111619
Term Name: combined D-2- and L-2-hydroxyglutaric aciduria Search Ontology:
Synonyms:
  • combined D,L-2-hydroxyglutaric aciduria
  • combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
  • combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
  • D,L-2-HGA
  • D,L-2-hydroxyglutaric acidemia
  • D,L-2-hydroxyglutaric aciduria
Definition: A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A1 on chromosome 22q11.21. (3)
References:
  • OMIM:615182
  • ORDO:356978
  • SNOMEDCT_US_2019_09_01:713401006
  • UMLS_CUI:C4076194
Ontology: Human Disease   (DOID:0111619)
OTHER combined D-2- and L-2-hydroxyglutaric aciduria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC25A1 Combined D-2- and L-2-hydroxyglutaric aciduria 615182
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None