primary hyperoxaluria type 2
Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.
MONDO:0002474
primary hyperoxaluria
is_a
D-glycerate dehydrogenase deficiency
exact
GRHPR primary hyperoxaluria
exact
HP2
related
L-glyceric aciduria
exact
hyperoxaluria, primary, type II
related
primary hyperoxaluria caused by mutation in GRHPR
exact
primary hyperoxaluria type 2
exact
primary hyperoxaluria type II
exact
SPACUNK4.10 SPBC1773.17c