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KRT14-related epidermolysis bullosa simplex

Disease Summary
Associated Targets (3)
Tbio

3


Mondo Description KRT14-related epidermolysis bullosa simplex (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.
Uniprot Description A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering and cleavage within basal keratinocytes, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma.
Mondo Term and Equivalent IDs
MONDO:0010976:  KRT14-related epidermolysis bullosa simplex
MESH:C563408: 
Orphanet:89838: