# adenine phosphoribosyltransferase deficiency

> amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern

**Wikidata**: [Q4682223](https://www.wikidata.org/wiki/Q4682223)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency)  
**Source**: https://4ort.xyz/entity/adenine-phosphoribosyltransferase-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000198931/MONDO_0013869)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)