OBO ID: DOID:3209
Term Name: junctional epidermolysis bullosa Search Ontology:
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_2021_09_01:76905008
  • UMLS_CUI:C0079301
Ontology: Human Disease   (DOID:3209)
OTHER junctional epidermolysis bullosa PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None