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DOID:0060236 - xanthinuria
Disease Ontology 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.
Synonyms: xanthine dehydrogenase deficiency, xanthine oxidase deficiency,
Echinobase Genes : xdh
MIM:278300 - xanthinuria, type i |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
purine-pyrimidine metabolic disorder (is_a)