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| Term | epidermolysis bullosa with congenital localized absence of skin and deformity of nails | ID (Ontology) | DOID:0111347 (Human Disease) |
| 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. | ||
| Also Known As | "EBD, Bart type" ; "epidermolysis bullosa dystrophica, Bart type" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease___________________________ disease | epidermolysis bullosa dystrophica | |__autosomal dominant dystrophic epidermolysis bullosa__| |__physical disorder____________________________________| epidermolysis bullosa with congenital localized absence of skin and deformity of nails |
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| Is a |
autosomal dominant disease physical disorder autosomal dominant dystrophic epidermolysis bullosa |
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External Crossreferences & Linkouts
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MESH:C562638 MIM:132000 |
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