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| Term | xanthinuria | ID (Ontology) | DOID:0060236 (Human Disease) |
| 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. | ||
| Also Known As | "classic xanthinuria" ; "hereditary xanthinuria" ; "xanthine dehydrogenase deficiency" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease___________ inherited metabolic disorder | |__purine-pyrimidine metabolic disorder__| xanthinuria 19 rec. |__xanthinuria type I 6 rec. |__xanthinuria type II 1 rec. |
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| Is a |
autosomal recessive disease purine-pyrimidine metabolic disorder |
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External Crossreferences & Linkouts
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ICD10CM:E79.8 MIM:PS278300 ORDO:3467 SNOMEDCT_US_2023_03_01:190919008 UMLS_CUI:C0220988 |
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