epidermolysis bullosa simplex
MONDO:0017610Mondo
Findings
No curated finding names epidermolysis bullosa simplex yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.
Definition from the Mondo Disease Ontology (MONDO:0017610), read 2026-09-29. CC BY 4.0.
Genes
3 genes
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.
Where it sits
- A kind of
- Narrower terms (20)
- epidermolysis bullosa simplex 1A, generalized severe
- epidermolysis bullosa simplex 1B, generalized intermediate
- epidermolysis bullosa simplex 1C, localized
- epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
- epidermolysis bullosa simplex 2A, generalized severe
- epidermolysis bullosa simplex 2B, generalized intermediate
- epidermolysis bullosa simplex 2C, localized
- epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
- epidermolysis bullosa simplex 2E, with migratory circinate erythema
- epidermolysis bullosa simplex 2F, with mottled pigmentation
- epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
- epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
- epidermolysis bullosa simplex 5A, Ogna type
- epidermolysis bullosa simplex 5B, with muscular dystrophy
Other names
2 names
Resolves to: epidermolysis bullosa simplex
- Also called
- EBSEEB