Summary Literature (0)

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),

Echinobase Genes :


OMIM:

MIM:601001 - epidermolysis bullosa simplex, autosomal recessive 1; ebsb1

MIM:615425 - epidermolysis bullosa simplex, autosomal recessive 2; ebsb2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee