# glutathione synthetase deficiency

> human disease

**Wikidata**: [Q102296856](https://www.wikidata.org/wiki/Q102296856)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Glutathione_synthetase_deficiency)  
**Source**: https://4ort.xyz/entity/glutathione-synthetase-deficiency


## References

1. Disease Ontology
2. Human Phenotype Ontology release 2018-03-08
3. Monarch Disease Ontology release 2018-06-29
4. UniProt
5. Mutations in the glutathione synthetase gene cause 5–oxoprolinuria
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000100983/MONDO_0009947)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)