Term Name: | epidermolysis bullosa dystrophica |
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Synonyms: | Dystrophic epidermolysis bullosa |
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. |
Ontology: | Human Disease [DOID:4959] ( DOID:4959 ) |