# Papillon-Lefevre disease

> Human disease

**Wikidata**: [Q2050791](https://www.wikidata.org/wiki/Q2050791)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Papillon–Lefèvre_syndrome)  
**Source**: https://4ort.xyz/entity/papillon-lefevre-disease


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000109861/MONDO_0009490)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000109861/Orphanet_678)
8. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)