# PSPH deficiency

> serine deficiency that has material basis in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine

**Wikidata**: [Q18553428](https://www.wikidata.org/wiki/Q18553428)  
**Source**: https://4ort.xyz/entity/psph-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations responsible for 3-phosphoserine phosphatase deficiency
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000146733/MONDO_0013531)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)