Preferred Name | Epidermolysis bullosa dystrophica, Pasini type | |
Synonyms |
P-DEB |
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Definitions |
(DDEB) - A group of autosomal dominant blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. - (EBDSC) - A bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Clinical features include blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic epidermolysis bullosa. - (P-DEB) - A severe, dominantly inherited form of dystrophic epidermolysis bullosa characterized by albopapuloid Pasini papule, dorsal extremity blistering, milia formation and red atrophic scarring after recurrent blisters. |
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ID |
http://identifiers.org/omim/131750 |
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altLabel |
P-DEB |
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definition |
(DDEB) - A group of autosomal dominant blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. - (EBDSC) - A bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Clinical features include blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic epidermolysis bullosa. - (P-DEB) - A severe, dominantly inherited form of dystrophic epidermolysis bullosa characterized by albopapuloid Pasini papule, dorsal extremity blistering, milia formation and red atrophic scarring after recurrent blisters. |
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id |
OMIM:131750 |
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notation |
OMIM:131750 |
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prefLabel |
Epidermolysis bullosa dystrophica, Pasini type |
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subClassOf |
Delete | Mapping To | Ontology | Source |
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http://identifiers.org/omim/131750 | REXO | SAME_URI | |
http://identifiers.org/omim/131750 | GEXO | SAME_URI | |
http://purl.obolibrary.org/obo/OMIM_131750 | CCO | LOOM | |
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535956 | RH-MESH | LOOM | |
http://purl.bioontology.org/ontology/MESH/C535956 | MESH | LOOM | |
http://identifiers.org/omim/131750 | REXO | LOOM | |
http://identifiers.org/omim/131750 | GEXO | LOOM |