| http://purl.uniprot.org/diseases/6341 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/6341 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB4 is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur. JEB4 patients manifest blisters at birth or shortly afterward. Blisters may heal with atrophic scarring and variable hypo- or hyperpigmentation. Oral mucosa may be involved."xsd:string |
| http://purl.uniprot.org/diseases/6341 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/619787 |
| http://purl.uniprot.org/diseases/6341 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/263 |
| http://purl.uniprot.org/diseases/6341 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D016109 |
| http://purl.uniprot.org/diseases/6341 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN307703 |
| http://purl.uniprot.org/diseases/6341 | http://www.w3.org/2004/02/skos/core#prefLabel | "Epidermolysis bullosa, junctional 4, intermediate"xsd:string |
| http://purl.uniprot.org/diseases/6341 | http://purl.uniprot.org/core/mnemonic | "JEB4"xsd:string |
| http://purl.uniprot.org/diseases/6341 | http://www.w3.org/2004/02/skos/core#altLabel | "Epidermolysis bullosa, junctional, localisata variant"xsd:string |
| http://purl.uniprot.org/diseases/6341 | http://www.w3.org/2004/02/skos/core#altLabel | "Epidermolysis bullosa, junctional 4, non-Herlitz type"xsd:string |
| http://purl.uniprot.org/diseases/6341 | http://www.w3.org/2004/02/skos/core#altLabel | "Epidermolysis bullosa, generalized atrophic benign"xsd:string |
| http://purl.uniprot.org/diseases/6341 | http://www.w3.org/2004/02/skos/core#altLabel | "GABEB"xsd:string |
| http://purl.uniprot.org/uniprot/Q9UMD9#SIP3E05D3E79442FA02 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/6341 |
| http://purl.uniprot.org/annotation/VAR_017596 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6341 |
| http://purl.uniprot.org/annotation/VAR_017598 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6341 |
| http://purl.uniprot.org/annotation/VAR_017599 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6341 |
| http://purl.uniprot.org/annotation/VAR_017601 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6341 |
| http://purl.uniprot.org/uniprot/#_97359276D47D90D2_up.disease_8D406062AF56DCC9 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/6341 |