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Human Phenotype Ontology
Last uploaded:
January 16, 2025
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| Preferred Name | Xanthinuria | |
| Synonyms |
Increased urinary xanthine |
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| Definitions |
An increased concentration of xanthine in the urine. Xanthinuria is generally caused by a defect in the xanthine oxidase, an enzyme that catalyzes the oxidation of hypoxanthine to xanthine and can further catalyze the oxidation of xanthine to uric acid. The formation of xanthine stones in the urinary tract is the main evidence of this abnormality. |
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| ID |
http://purl.obolibrary.org/obo/HP_0010934 |
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| comment |
Xanthinuria is generally caused by a defect in the xanthine oxidase, an enzyme that catalyzes the oxidation of hypoxanthine to xanthine and can further catalyze the oxidation of xanthine to uric acid. The formation of xanthine stones in the urinary tract is the main evidence of this abnormality.
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| creation_date |
2011-01-10T07:55:12Z
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| database_cross_reference |
SNOMEDCT_US:190919008 UMLS:C0220988 SNOMEDCT_US:54627004
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| definition |
An increased concentration of xanthine in the urine.
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| has_exact_synonym |
Increased urinary xanthine
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| has_obo_namespace |
human_phenotype
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| id |
HP:0010934
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| label |
Xanthinuria
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| notation |
HP:0010934
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| prefLabel |
Xanthinuria
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| terms_creator | ||
| treeView | ||
| subClassOf |
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