# 5-oxoprolinase deficiency

> 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria

**Wikidata**: [Q52611903](https://www.wikidata.org/wiki/Q52611903)  
**Source**: https://4ort.xyz/entity/5-oxoprolinase-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Human Phenotype Ontology release 2018-03-08
3. 5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000178814/MONDO_0009825)