# xanthinuria

> 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

**Wikidata**: [Q1476965](https://www.wikidata.org/wiki/Q1476965)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Xanthinuria)  
**Source**: https://4ort.xyz/entity/xanthinuria


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria
5. Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II
6. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
7. Human Phenotype Ontology release 2018-03-08