# epidermolysis bullosa simplex with muscular dystrophy

> autosomal recessive disease characterized early childhood onset of progressive muscular dystrophy and blistering skin changes and that has material basis in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24

**Wikidata**: [Q5382849](https://www.wikidata.org/wiki/Q5382849)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Epidermolysis_bullosa_simplex_with_muscular_dystrophy)  
**Source**: https://4ort.xyz/entity/epidermolysis-bullosa-simplex-with-muscular-dystrophy


## References

1. Monarch Disease Ontology release 2018-06-29
2. Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy
3. Disease Ontology
4. UniProt
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000178209/MONDO_0009181)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000178209/Orphanet_257)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)