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Disease Ontology Browser
epidermolysis bullosa simplex 1C (DOID:0080510)
Alliance: disease page
Synonyms: epidermolysis bullosa simplex localized type; epidermolysis bullosa simplex Weber-Cockayne type
Alt IDs: OMIM:131800
Definition: An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet and that has_material_basis_in heterozygous mutation in the keratin-14 gene (KRT14) on chromosome 17q21.

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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Send questions and comments to User Support. 		last database update
04/07/2026
MGI 6.24 		The Jackson Laboratory