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DOID:4644 - epidermolysis bullosa simplex
Disease Ontology 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.
Synonyms: Epidermolysis bullosa simplex, Epidermolysis bullosa simplex (disorder)
Xenbase Genes
:
dst,
plec
| MONDO:0017610 - epidermolysis bullosa simplex |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
epidermolysis bullosa (is_a)