DO_rare_slim NCIthesaurus epidermolysis bullosa epidermolysis bullosa dystrophica GARD:2150 UMLS_CUI:C0079294 ICD10CM:Q81.2 disease_ontology NCI:C84691 DOID:4959 An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. SNOMEDCT_US_2025_09_01:254185007 MESH:D016108 Dystrophic epidermolysis bullosa