Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Genetic
Epidermolysis Bullosa
Preferred term
Epidermolysis Bullosa Simplex
Type
-
Topical Descriptor
Broader concept
Entry terms
- Epidermolysis Bullosa Herpetiformis Dowling-Meara
- Epidermolysis Bullosa Simplex Kobner
- Weber Cockayne Syndrome
- Weber-Cockayne Syndrome
Scope note
- A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.
History note
- 1991
In other languages
-
Finnish
-
Swedish
URI
http://www.yso.fi/onto/mesh/D016110
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