Term Name: epidermolysis bullosa simplex
Synonyms:
Definition: An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.
Ontology: Human Disease [DOID:4644]   ( DOID:4644 )

Relationships
is a type of: epidermolysis bullosa
has subtype: epidermolysis bullosa simplex Dowling-Meara type epidermolysis bullosa simplex generalized type epidermolysis bullosa simplex localized type epidermolysis bullosa simplex Ogna type epidermolysis bullosa simplex with mottled pigmentation