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loading...| Preferred Name | epidermolysis bullosa dystrophica | |
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| Definitions |
An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. |
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| ID |
http://purl.obolibrary.org/obo/DOID_4959 |
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| definition |
An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. |
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| label |
epidermolysis bullosa dystrophica |
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| prefixIRI |
DOID:4959 |
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| prefLabel |
epidermolysis bullosa dystrophica |
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| subClassOf |
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