Version: 8.0.0
Date: Tue Jan 28 2025
epidermolysis bullosa simplex
DOID:4644
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

epidermolysis bullosa simplex

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.
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None
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