Human genes for primary hyperoxaluria type 2
Primary hyperoxaluria type 2 [DOID:0111671]
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: primary hyperoxaluria type 2, DOID:0111671, D-glycerate dehydrogenase deficiency, glyoxylate reductase/hydroxypyruvate reductase deficiency, HP2 ...