epidermolysis bullosa epidermolysis bullosa simplex OMIM:601001 UMLS_CUI:C0079298 GARD:10752 ICD10CM:Q81.0 OMIM:615425 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. ORDO:304 MESH:D016110 DOID:4644 Epidermolysis bullosa simplex NCI:C84692 SNOMEDCT_US_2020_03_01:205585003 disease_ontology