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Kidney Tissue Atlas Ontology
Last uploaded:
March 16, 2024
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| Preferred Name | hereditary xanthinuria | |
| Synonyms |
xanthinuria xanthine dehydrogenase deficiency classic xanthinuria xanthine stone disease hereditary xanthinuria xanthine oxidase deficiency xanthic urolithiasis |
|
| 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 |
|
| closeMatch | ||
| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml |
|
| database_cross_reference |
DOID:0060236 ICD9:277.2 SCTID:54627004 OMIMPS:278300 Orphanet:3467 ICD10:E79.8 HP:0010934
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|
| exactMatch |
http://identifiers.org/snomedct/54627004 |
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| has exact synonym |
xanthine dehydrogenase deficiency classic xanthinuria xanthine stone disease hereditary xanthinuria xanthine oxidase deficiency xanthic urolithiasis
|
|
| has related synonym |
xanthinuria
|
|
| id |
MONDO:0018106
|
|
| imported from | ||
| in_subset | ||
| label |
hereditary xanthinuria
|
|
| notation |
MONDO:0018106
|
|
| prefLabel |
hereditary xanthinuria
|
|
| 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.
|
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019743 |
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