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Disease Ontology Browser
epidermolysis bullosa dystrophica (DOID:4959)
Alliance: disease page
Synonyms: Dystrophic epidermolysis bullosa
Alt IDs: ICD10CM:Q81.2, MESH:D016108, NCI:C84691, UMLS_CUI:C0079294
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.

Disease References using Mouse Models (10)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory