# PAPA syndrome

> Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin

**Wikidata**: [Q7118181](https://www.wikidata.org/wiki/Q7118181)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/PAPA_syndrome)  
**Source**: https://4ort.xyz/entity/papa-syndrome


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Monarch Disease Ontology release 2018-06-29
3. Disease Ontology
4. UniProt
5. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000140368/MONDO_0011462)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000140368/Orphanet_69126)