Search Ontology:
Human Disease

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 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models