# dihydropyrimidine dehydrogenase deficiency

> purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine

**Wikidata**: [Q5276448](https://www.wikidata.org/wiki/Q5276448)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency)  
**Source**: https://4ort.xyz/entity/dihydropyrimidine-dehydrogenase-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Human Polymorphism in Drug Metabolism: Mutation in the Dihydropyrimidine Dehydrogenase Gene Results in Exon Skipping and Thymine Uracilurea
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000188641/MONDO_0010130)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. Human Phenotype Ontology release 2018-03-08