| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| 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. (Human Disease Ontology, DOID_0060236) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0010934 |
| Similar Terms | |
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3 genes associated with the xanthinuria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
