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bn:03323665n
Noun Concept
Categories: Rare diseases, Cytoskeletal defects, Genodermatoses
EN
epidermolysis bullosa simplex  Epidermolysis bullosa simplex with mottled pigmentation  Dowling-Meara disease  Dowling-Meara epidermolysis bullosa simplex  Dowling–Meara epidermolysis bullosa simplex
EN
Epidermolysis bullosa simplex is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14. Wikipedia
Definitions
Relations
Sources
EN
Epidermolysis bullosa simplex is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14. Wikipedia
A disease Wikipedia Disambiguation
Disorder resulting from mutations in the genes encoding keratin 5 or keratin 14 Wikidata
IS A
rare disease
epidermolysis bullosa
HAS KIND
skin fragility syndrome
lethal acantholytic epidermolysis bullosa
GENETIC ASSOCIATION
Dystonin
HEALTH SPECIALTY
medical genetics
NAMED AFTER
Frederick Parkes Weber
Edward Alfred Cockayne
Wikipedia
EN
epidermolysis bullosa simplex
Wikidata
EN
epidermolysis bullosa simplex
Wikipedia Redirections
EN
Dowling-Meara disease, Dowling-Meara epidermolysis bullosa simplex, Dowling–Meara epidermolysis bullosa simplex, Epidermolysis bullosa herpetiformis, Epidermolysis Bullosa Simplex, Generalized, Epidermolysis Bullosa Simplex, Localized, Epidermolysis bullosa simplex (Köbner), Epidermolysis bullosa simplex herpetiformis, Epidermolysis bullosa simplex of Ogna, Epidermolysis bullosa simplex with mottled pigmentation, Epidermolysis bullosa simplex with muscular dystrophy, Generalized epidermolysis bullosa simplex, Koebner variant of generalized epidermolysis bullosa simplex, Localized epidermolysis bullosa simplex, Weber-Cockayne syndrome, Weber-Cockayne variant of generalized epidermolysis bullosa simplex, Weber–Cockayne syndrome, Weber–Cockayne variant of generalized epidermolysis bullosa simplex
Wikidata Alias
EN
Epidermolysis bullosa simplex, Weber–Cockayne syndrome

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