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Disease Ontology Browser
junctional epidermolysis bullosa (DOID:3209)
Alliance: disease page
Synonyms: congenital junctional epidermolysis bullosa
Alt IDs: MESH:D016109, NCI:C90598, UMLS_CUI:C0079301
Definition: 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.

Disease References using Mouse Models (13)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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03/18/2025
MGI 6.24 		The Jackson Laboratory