Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:4959 - epidermolysis bullosa dystrophica

Disease Ontology Definition:An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.

Synonyms: Dystrophic epidermolysis bullosa,

Xenbase Genes : mmp1, col7a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0006543 - epidermolysis bullosa dystrophica


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): epidermolysis bullosa (is_a)