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Human Disease Ontology
Last uploaded:
December 20, 2024
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| Preferred Name | xanthinuria | |
| Synonyms |
classic xanthinuria xanthine dehydrogenase deficiency hereditary xanthinuria xanthine oxidase deficiency |
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| Definitions |
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. NT MGI. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0060236 |
|
| comment |
NT MGI.
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|
| created_by |
emitraka
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|
| creation_date |
2015-01-27T14:10:42Z
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| database_cross_reference |
UMLS_CUI:C0220988 MIM:PS278300 SNOMEDCT_US_2023_03_01:190919008 ICD10CM:E79.8 ORDO:3467
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|
| 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.
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|
| has exact synonym |
classic xanthinuria xanthine dehydrogenase deficiency hereditary xanthinuria xanthine oxidase deficiency
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| has material basis in | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:0060236
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| in_subset | ||
| label |
xanthinuria
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|
| notation |
DOID:0060236
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| prefLabel |
xanthinuria
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| subClassOf |
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