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primary hyperoxaluria type 3

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.
Uniprot Description A disorder phenotypically similar to hyperoxaluria type 1 and type 2. It is characterized by increase in urinary oxalate excretion and mild glycolic aciduria. Clinical manifestations include calcium oxalate urolithiasis, hematuria, pain, and/or urinary tract infection.
Mondo Term and Equivalent IDs
MONDO:0013327:  primary hyperoxaluria type 3
DOID:0111672: 
GARD:0010738: 
NCIT:C123214: 
Orphanet:93600: 
SCTID:734990008: 
UMLS:C3150878: