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Mondo Disease Ontology
| Preferred Name | hereditary xanthinuria | |
| Synonyms |
xanthinuria xanthine dehydrogenase deficiency classic xanthinuria xanthine stone disease hereditary xanthinuria 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 |
|
| database_cross_reference |
DOID:0060236 GARD:16628 ICD9:277.2 SCTID:54627004 UMLS:C5779508 OMIMPS:278300 Orphanet:3467 MEDGEN:1830243 HP:0010934
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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
|
|
| has_related_synonym |
xanthinuria
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|
| id |
MONDO:0018106
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
hereditary xanthinuria
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|
| notation |
MONDO:0018106
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|
| prefLabel |
hereditary xanthinuria
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|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| 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 |
|
| terms_conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml |
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| excluded subClassOf | ||
| subClassOf |
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