epidermolysis bullosa dystrophica (DOID:4959)
Alliance: disease page
Synonyms: Dystrophic epidermolysis bullosa
Alt IDs: ICD10CM:Q81.2, MESH:D016108, NCI:C84691, UMLS_CUI:C0079294
Definition: 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.