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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:0006543 - epidermolysis bullosa dystrophica |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
epidermolysis bullosa (is_a)