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DO Term : xanthinuria [DOID:0060236] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
ORDO:3467,
hereditary xanthinuria,
ICD10CM:E79.8,
SNOMEDCT_US_2023_03_01:190919008,
UMLS_CUI:C0220988,
PS278300,
classic xanthinuria,
xanthine dehydrogenase deficiency,
OMIM:PS278300,
xanthine oxidase deficiency

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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