# epidermolysis bullosa simplex with pyloric atresia

> Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia

**Wikidata**: [Q55783863](https://www.wikidata.org/wiki/Q55783863)  
**Source**: https://4ort.xyz/entity/epidermolysis-bullosa-simplex-with-pyloric-atresia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000178209/MONDO_0012807)
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000178209/Orphanet_158684)