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junctional epidermolysis bullosa

Disease Summary
Associated Targets (8)
Tbio

7

Tchem

1


GARD Rare
Mondo Description Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.
Disease Ontology Description An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.
Mondo Term and Equivalent IDs
MONDO:0017612:  junctional epidermolysis bullosa
GARD:0002152: 
MESH:D016109: 
NCIT:C90598: 
Orphanet:305: 
SCTID:79855003: 
UMLS:C0079301: