You are using an outdated browser. Please upgrade your browser to improve your experience.
epidermolysis bullosa dystrophica
Disease Summary
Associated Targets (2)
Tchem
1
Tbio
1
Mondo Description A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.
Disease Ontology Description 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.
Download Data for epidermolysis bullosa dystrophica
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:4959
EFO:1000692
MESH:D016108
NCIT:C84691
SCTID:254185007
MONDO:0006543
High level summary of knowledge for a disease, including descriptions and datasource references.