Term Name: | xanthinuria |
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Synonyms: | classic xanthinuria, hereditary xanthinuria, xanthine dehydrogenase deficiency, xanthine oxidase deficiency |
Definition: | 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. |
Ontology: | Human Disease [DOID:0060236] ( DOID:0060236 ) |