loading...| Preferred Name | epidermolysis bullosa with congenital localized absence of skin and deformity of nails | |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111347 |
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| 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. |
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| label |
epidermolysis bullosa with congenital localized absence of skin and deformity of nails |
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| prefixIRI |
DOID:0111347 |
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| prefLabel |
epidermolysis bullosa with congenital localized absence of skin and deformity of nails |
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| subClassOf |
http://purl.obolibrary.org/obo/DOID_0080224 |