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hereditary xanthinuria

Disease Summary
Associated Targets (6)
Tbio

3

Tclin

2

Tchem

1


Mondo Description Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.
Disease Ontology Description A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.
Mondo Term and Equivalent IDs
MONDO:0018106:  hereditary xanthinuria
DOID:0060236: xanthinuria
OMIMPS:278300: 
Orphanet:3467: 
SCTID:54627004: