You are using an outdated browser. Please upgrade your browser to improve your experience.

primary hyperoxaluria type 2

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description 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.
Uniprot Description A disorder characterized by elevated urinary excretion of oxalate and L-glycerate, progressive tissue accumulation of insoluble calcium oxalate, nephrolithiasis, nephrocalcinosis, and end-stage renal disease.
Mondo Term and Equivalent IDs
MONDO:0009824:  primary hyperoxaluria type 2
DOID:0111671: 
GARD:0002836: 
MESH:C536415: 
NCIT:C123213: 
Orphanet:93599: 
SCTID:40951006: 
UMLS:C0268165: