Search Ontology:
Human Disease

xanthinuria

Term ID
DOID:0060236
Synonyms
  • classic xanthinuria
  • hereditary xanthinuria
  • xanthine dehydrogenase deficiency
  • xanthine oxidase deficiency
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. (3)
References
  • ICD10CM:E79.8
  • OMIM:PS278300
  • ORDO:3467
  • SNOMEDCT_US_2023_03_01:190919008
  • UMLS_CUI:C0220988
Ontology
Human Disease   ( DOID:0060236 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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