DISEASES

Disease-gene associations mined from literature

Human genes for junctional epidermolysis bullosa

Junctional epidermolysis bullosa [DOID:3209]

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.

Synonyms:  junctional epidermolysis bullosa,  DOID:3209,  junctional epidermolysis bullosas,  congenital junctional epidermolysis bullosa,  congenital junctional epidermolysis bullosas

Linkouts:  OMIM #1 #2