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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | hereditary xanthinuria | |
| Synonyms |
xanthinuria xanthine dehydrogenase deficiency classic xanthinuria xanthine stone disease hereditary xanthinuria xanthic urolithiasis |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0018106 |
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| altLabel |
xanthinuria xanthine dehydrogenase deficiency classic xanthinuria xanthine stone disease hereditary xanthinuria xanthic urolithiasis
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|
| definition |
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.
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| has_exact_synonym |
xanthine dehydrogenase deficiency classic xanthinuria xanthine stone disease hereditary xanthinuria xanthic urolithiasis
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| has_related_synonym |
xanthinuria
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|
| label |
hereditary xanthinuria
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| prefixIRI |
MONDO:0018106
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| prefLabel |
hereditary xanthinuria
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| textual definition |
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.
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100191 http://purl.obolibrary.org/obo/MONDO_0019743 |
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