| Metadata | |
|---|---|
| ID | 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 |
SNOMEDCT_US_2023_03_01:76905008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
congenital junctional epidermolysis bullosa [EXACT] |
| Parent Relationships |