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 1C epidermolysis bullosa simplex 2F with mottled pigmentation epidermolysis bullosa simplex 5A Ogna type generalized intermediate epidermolysis bullosa simplex 1B generalized severe epidermolysis bullosa simplex 1A