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Summary Literature (0)
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 GRHPR on chromosome 9p13.2.

Synonyms: D-glycerate dehydrogenase deficiency, HP2, L-glyceric aciduria, oxalosis IIglyoxylate reductase/hydroxypyruvate reductase deficiency

Xenbase Genes : grhpr.1, grhpr.2


OMIM:
OMIM:260000 - HYPEROXALURIA, PRIMARY, TYPE II; HP2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): primary hyperoxaluria (is_a)