epidermolysis bullosa dystrophica
MONDO:0006543Mondo
Findings
No curated finding names epidermolysis bullosa dystrophica yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.
Definition from the Mondo Disease Ontology (MONDO:0006543), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
- Narrower terms (12)
- acral dystrophic epidermolysis bullosa
- centripetalis recessive dystrophic epidermolysis bullosa
- dystrophic epidermolysis bullosa pruriginosa
- dystrophic epidermolysis bullosa, nails only
- epidermolysis bullosa dystrophica Neurotrophica
- epidermolysis bullosa dystrophica with subcorneal cleavage
- generalized dominant dystrophic epidermolysis bullosa
- localized dystrophic epidermolysis bullosa
- pretibial dystrophic epidermolysis bullosa
- recessive dystrophic epidermolysis bullosa
- recessive dystrophic epidermolysis bullosa-generalized other
- transient bullous dermolysis of the newborn
Other names
2 names
Resolves to: epidermolysis bullosa dystrophica
- Also called
- DEBdermolytic epidermolysis bullosa