inherited epidermolysis bullosa
MONDO:0019276Mondo
Findings
No curated finding names inherited epidermolysis bullosa yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.
Definition from the Mondo Disease Ontology (MONDO:0019276), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- JUPHGNC:6207
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
Where it sits
Other names
2 names
Resolves to: inherited epidermolysis bullosa
- Also called
- epidermolysis bullosa hereditariahereditary epidermolysis bullosa