|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|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. (Orphanet Rare Disease Ontology, Orphanet_93599)|
|Downloads & Tools|
1 genes/proteins associated with the disease Primary hyperoxaluria type 2 from the curated CTD Gene-Disease Associations dataset.
|GRHPR||glyoxylate reductase/hydroxypyruvate reductase||2.88009|