Preferred Name | epidermolysis bullosa dystrophica | |
Synonyms |
epidermolysis bullosa, dermolytic epidermolysis bullosa dystrophica dermolytic epidermolysis bullosa DEB |
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Definitions |
A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0006543 |
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altLabel |
epidermolysis bullosa, dermolytic epidermolysis bullosa dystrophica dermolytic epidermolysis bullosa DEB |
|
definition |
A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes. |
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has_exact_synonym |
epidermolysis bullosa dystrophica dermolytic epidermolysis bullosa DEB |
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has_related_synonym |
epidermolysis bullosa, dermolytic |
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IAO_0000233 | ||
label |
epidermolysis bullosa dystrophica |
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prefixIRI |
MONDO:0006543 |
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prefLabel |
epidermolysis bullosa dystrophica |
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textual definition |
A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes. |
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subClassOf |