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Disease Ontology Browser
epidermolysis bullosa with congenital localized absence of skin and deformity of nails (DOID:0111347)
Alliance: disease page
Synonyms: EBD, Bart type; epidermolysis bullosa dystrophica, Bart type
Alt IDs: OMIM:132000, MESH:C562638
Definition: An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in COL7A1 on chromosome 3p21.31.


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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last database update
11/15/2022
MGI 6.22
The Jackson Laboratory