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Summary Literature (0)
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: classic xanthinuria, hereditary xanthinuria, xanthine dehydrogenase deficiency, xanthine oxidase deficiency

Xenbase Genes : xdh, mocos

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018106 - hereditary xanthinuria

MIM:
MIM:278300 - XANTHINURIA, TYPE I; XAN1
MIM:603592 - XANTHINURIA, TYPE II; XAN2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), purine-pyrimidine metabolic disorder (is_a)