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epidermolysis bullosa with congenital localized absence of skin and deformity of nails
Summary
- Synonym
-
- EBD, Bart type
- epidermolysis bullosa dystrophica, Bart type
- 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 the COL7A1 gene on chromosome 3p21.31.
- Super Class
- autosomal dominant disease autosomal dominant dystrophic epidermolysis bullosa physical disorder
External Links
- Disease Ontology
- DOID:0111347
- Mondo Disease Ontology
- MeSH
- OMIM
