Epidermolysis bullosa simplex
DISORDER RESULTING FROM MUTATIONS IN THE GENES ENCODING KERATIN 5 OR KERATIN 14
Weber-Cockayne syndrome; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis Bullosa Simplex, Localized; Generalized epidermolysis bullosa simplex; Koebner variant of generalized epidermolysis bullosa simplex; Localized epidermolysis bullosa simplex; Weber-Cockayne variant of generalized epidermolysis bullosa simplex; Epidermolysis bullosa herpetiformis; Dowling–Meara epidermolysis bullosa simplex; Epidermolysis bullosa simplex of Ogna; Epidermolysis bullosa simplex with muscular dystrophy; Epidermolysis bullosa simplex with mottled pigmentation; Weber–Cockayne syndrome; Weber–Cockayne variant of generalized epidermolysis bullosa simplex; Dowling-Meara epidermolysis bullosa simplex; Epidermolysis bullosa simplex (Köbner); Epidermolysis bullosa simplex with mottled pigmentation (Gedde-Dahl); Epidermolysis bullosa simplex (Weber-Cockayne); Dowling-Meara disease; Epidermolysis bullosa simplex herpetiformis
Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.Freedberg, et al.