has material basis in disease has basis in autosomal dominant disease physical disorder autosomal dominant dystrophic epidermolysis bullosa epidermolysis bullosa with congenital localized absence of skin and deformity of nails MESH:C562638 disease_ontology 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. MIM:132000 DOID:0111347 EBD, Bart type epidermolysis bullosa dystrophica, Bart type autosomal dominant inheritance Abnormality of prenatal development or birth