| http://purl.uniprot.org/keywords/263 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Concept |
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| http://purl.uniprot.org/keywords/263 | http://www.w3.org/2000/01/rdf-schema#subClassOf | http://purl.uniprot.org/keywords/9995 |
| http://purl.uniprot.org/keywords/263 | http://www.w3.org/2000/01/rdf-schema#comment | "Protein which, if defective, causes epidermolysis bullosa, any of a group of mechano-bullous disorders characterized by blistering and/or erosion of the skin and mucous membranes which occur spontaneously or as a result of mild physical trauma. Traditionally, epidermolysis bullosa is divided into three broad categories based on the level of tissue separation: in epidermolysis bullosa simplex (EBS), tissue separation is intraepidermal and occurs within the basal keratinocytes at the bottom layer of epidermis; the junctional forms (JEB) display tissue separation within the dermo-epidermal basement membrane (basement membrane zone, BMZ), primarily within the lamina lucida; in the dystrophic forms (DEB), tissue separation occurs below the lamina densa within the upper papillary dermis. Some forms of epidermolysis bullosa display tissue separation at the basal cell/lamina lucida interface, at the level of the hemidesmosomes (hemidesmosomal variants). The hemidesmosomal variants overlap with the traditional subtypes, particularly the simplex and junctional forms. In addition to skin involvement, various extracutaneous manifestations can be associated with distinct subtypes of epidermolysis bullosa."xsd:string |
| http://purl.uniprot.org/keywords/263 | http://www.w3.org/2004/02/skos/core#prefLabel | "Epidermolysis bullosa"xsd:string |
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