# PHGDH deficiency, infantile/juvenile form

> serine deficiency that has material basis in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis

**Wikidata**: [Q18553426](https://www.wikidata.org/wiki/Q18553426)  
**Source**: https://4ort.xyz/entity/phgdh-deficiency-infantile-juvenile-form


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000092621/MONDO_0011152)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000092621/Orphanet_79351)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. UMLS 2023