Term Name: primary hyperoxaluria type 2
Synonyms: D-glycerate dehydrogenase deficiency, glyoxylate reductase/hydroxypyruvate reductase deficiency, HP2, L-glyceric aciduria, oxalosis II
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.
Ontology: Human Disease [DOID:0111671]   ( DOID:0111671 )

Relationships
is a type of: primary hyperoxaluria