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Cell Culture Ontology
| Preferred Name | hereditary xanthinuria | |
| Synonyms |
xanthinuria xanthine dehydrogenase deficiency hereditary xanthinuria xanthic urolithiasis xanthine stone disease classic xanthinuria |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018106 |
|
| database_cross_reference |
OMIMPS:278300 UMLS:C5779508 Orphanet:3467 DOID:0060236 MEDGEN:1830243 SCTID:54627004 GARD:16628 HP:0010934 ICD9:277.2
|
|
| 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 hereditary xanthinuria xanthic urolithiasis xanthine stone disease classic xanthinuria
|
|
| has_related_synonym |
xanthinuria
|
|
| id |
MONDO:0018106
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
hereditary xanthinuria
|
|
| notation |
MONDO:0018106
|
|
| preferred label |
hereditary xanthinuria
|
|
| prefLabel |
hereditary xanthinuria
|
|
| skos_exactMatch |
https://omim.org/phenotypicSeries/PS278300 http://identifiers.org/snomedct/54627004 http://purl.obolibrary.org/obo/DOID_0060236 http://linkedlifedata.com/resource/umls/id/C5779508 |
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| subClassOf | ||
| excluded_subClassOf |
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