Term Name: xanthinuria
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.
Ontology: Human Disease [DOID:0060236]   ( DOID:0060236 )

Relationships
is a type of: autosomal recessive disease purine-pyrimidine metabolic disorder
has subtype: xanthinuria type I xanthinuria type II