junctional epidermolysis bullosa

Term ID

DOID:3209

Synonyms

• congenital junctional epidermolysis bullosa

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. https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa#genes

References

• GARD:2152
• MESH:D016109
• NCI:C90598
• SNOMEDCT_US_2023_03_01:76905008
• UMLS_CUI:C0079301

Ontology

Human Disease   ( DOID:3209 )