{"orpha":595351,"name":"Epidermolysis bullosa simplex with extracutaneous involvement","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["EBS with extracutaneous involvement"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-595351/","orphanet_url":"https://www.orpha.net/en/disease/detail/595351","names":{"fr":{"name":"Epidermolyse bulleuse simple avec manifestations extracutanées","synonyms":["EBS avec manifestations extracutanées"]},"de":{"name":"Epidermolysis bullosa simplex mit extrakutaner Beteiligung","synonyms":["EBS mit extrakutaner Beteiligung"]},"es":{"name":"Epidermólisis ampollosa simple con afectación extracutánea","synonyms":["EAS con afectación extracutánea"]},"it":{"name":"Epidermolisi bollosa semplice con coinvolgimento extracutaneo","synonyms":["EBS con coinvolgimento extracutaneo"]},"nl":{"name":"Epidermolysis bullosa simplex met extracutane betrokkenheid","synonyms":["EBS met extracutane betrokkenheid"]},"pt":{"name":"Epidermólise bolhosa simples com envolvimento extracutâneo","synonyms":["EBS com envolvimento extracutâneo"]},"pl":{"name":"Postać prosta pęcherzowego oddzielania się naskórka ze zmianami pozaskórnymi","synonyms":["EBS with extracutaneous involvement"]},"cs":{"name":"Epidermolysis bullosa simplex s extrakutánním postižením","synonyms":["EBS with extracutaneous involvement"]},"uk":{"name":"Простий бульозний епідермоліз з позашкірним ураженням","synonyms":["EBS з позашкірним залученням"]},"zh":{"name":"Epidermolysis bullosa simplex with extracutaneous involvement","synonyms":["EBS with extracutaneous involvement"]},"tr":{"name":"Epidermolysis bullosa simplex with extracutaneous involvement","synonyms":["EBS with extracutaneous involvement"]}},"xrefs":[{"source":"UMLS","code":"C5680281","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":304,"name":"Epidermolysis bullosa simplex","classifications":[156,187]}],"children":[{"orpha":2325,"name":"Epidermolysis bullosa simplex with anodontia/hypodontia","type":"Malformation syndrome"},{"orpha":257,"name":"Epidermolysis bullosa simplex with muscular dystrophy","type":"Disease"},{"orpha":158684,"name":"Epidermolysis bullosa simplex with pyloric atresia","type":"Disease"},{"orpha":508529,"name":"Intermediate epidermolysis bullosa simplex with cardiomyopathy","type":"Disease"},{"orpha":300333,"name":"Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}