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generalized dominant dystrophic epidermolysis bullosa

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.
Uniprot Description A group of autosomal dominant blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations.
Mondo Term and Equivalent IDs
MONDO:0007549:  generalized dominant dystrophic epidermolysis bullosa
GARD:0002139: 
Orphanet:231568: 
SCTID:75875004: