OBO ID: DOID:0111671
Term Name: primary hyperoxaluria type 2 Search Ontology:
Synonyms:
  • D-glycerate dehydrogenase deficiency
  • HP2
  • L-glyceric aciduria
  • oxalosis IIglyoxylate reductase/hydroxypyruvate reductase deficiency
Definition: A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in GRHPR on chromosome 9p13.2. (2)
References:
Ontology: Human Disease   (DOID:0111671)
OTHER primary hyperoxaluria type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GRHPR Hyperoxaluria, primary, type II 260000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None