OBO ID: DOID:4644 |
Term Name: | epidermolysis bullosa simplex | Search Ontology: | |
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Definition: | An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#genes | ||
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Ontology: | Human Disease ( DOID:4644 ) |
OTHER epidermolysis bullosa simplex PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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