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| Term | autosomal dominant dystrophic epidermolysis bullosa | ID (Ontology) | DOID:0080224 (Human Disease) |
| Definition | An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. | ||
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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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No relevant statements available
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epidermolysis bullosa |__epidermolysis bullosa dystrophica |__autosomal dominant dystrophic epidermolysis bullosa |__epidermolysis bullosa with congenital localized absence of skin and deformity of nails |
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| Is a | epidermolysis bullosa dystrophica | ||
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External Crossreferences & Linkouts
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GARD:2139 MIM:131750 |
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