# Skin fragility syndrome

> Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering

**Wikidata**: [Q7535394](https://www.wikidata.org/wiki/Q7535394)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Skin_fragility_syndrome)  
**Source**: https://4ort.xyz/entity/skin-fragility-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000081277/MONDO_0011472)