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DOID DOID:3209
Name 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
Xrefs

GARD:2152

MESH:D016109

NCI:C90598

SNOMEDCT_US_2018_03_01:33662006

SNOMEDCT_US_2018_03_01:76905008

SNOMEDCT_US_2018_03_01:79855003

UMLS_CUI:C0079301

Subsets

NCIthesaurus

Synonyms

congenital junctional epidermolysis bullosa [EXACT]

Relationships

is_a epidermolysis bullosa

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