DO_rare_slim NCIthesaurus epidermolysis bullosa epidermolysis bullosa simplex UMLS_CUI:C0079298 MIM: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. GARD:10752 SNOMEDCT_US_2025_09_01:205585003 ICD10CM:Q81.0 MIM:601001 ORDO:304 MESH:D016110 DOID:4644 NCI:C84692 MIM:PS131760 disease_ontology