epidermolysis bullosa with congenital localized absence of skin and deformity of nails (DOID:0111347)
Alliance: disease page
Synonyms: EBD, Bart type; epidermolysis bullosa dystrophica, Bart type
Alt IDs: OMIM:132000, MESH:C562638
Definition: An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31.