# phosphoribosylpyrophosphate synthetase superactivity

> human disease

**Wikidata**: [Q55782468](https://www.wikidata.org/wiki/Q55782468)  
**Source**: https://4ort.xyz/entity/phosphoribosylpyrophosphate-synthetase-superactivity


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000147224/MONDO_0010395)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)