OBO ID: DOID:0111347 |
Term Name: | epidermolysis bullosa with congenital localized absence of skin and deformity of nails | Search Ontology: | |
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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 the COL7A1 gene on chromosome 3p21.31. (2) | ||
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Ontology: | Human Disease ( DOID:0111347 ) |
OTHER epidermolysis bullosa with congenital localized absence of skin and deformity of nails PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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