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DOID:0111671 - primary hyperoxaluria type 2
Disease Ontology 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 the GRHPR gene on chromosome 9p13.2.
Synonyms: D-glycerate dehydrogenase deficiency, glyoxylate reductase/hydroxypyruvate reductase deficiency, HP2, L-glyceric aciduria, oxalosis II, oxalosis IIglyoxylate reductase/hydroxypyruvate reductase deficiency
Xenbase Genes
:
grhpr,
grhpr.2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
primary hyperoxaluria (is_a)