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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.
Mondo Term and Equivalent IDs
MONDO:0006543:  epidermolysis bullosa dystrophica
EFO:1000692: 
MESH:D016108: 
NCIT:C84691: 
SCTID:254185007: