FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term junctional epidermolysis bullosa ID (Ontology) DOID:3209 (Human Disease)
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.
Also Known As "congenital junctional epidermolysis bullosa"
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  vesiculobullous skin disease
   |__epidermolysis bullosa
       |__junctional epidermolysis bullosa  2 rec.
           |__junctional epidermolysis bullosa Herlitz type 1 rec.
           |__junctional epidermolysis bullosa non-Herlitz type 1 rec.
           |__junctional epidermolysis bullosa with pyloric atresia 1 rec.
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Synonyms
  • "congenital junctional epidermolysis bullosa" EXACT
Secondary IDs
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GARD:2152
MESH:D016109
NCI:C90598
SNOMEDCT_US_2023_03_01:76905008
UMLS_CUI:C0079301