{"orpha":595346,"name":"Epidermolysis bullosa simplex without extracutaneous involvement","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["EBS without 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-595346/","orphanet_url":"https://www.orpha.net/en/disease/detail/595346","names":{"fr":{"name":"Epidermolyse bulleuse simple sans manifestations extracutanées","synonyms":["EBS sans manifestations extracutanées"]},"de":{"name":"Epidermolysis bullosa simplex ohne extrakutane Beteiligung","synonyms":["EBS ohne extrakutane Beteiligung"]},"es":{"name":"Epidermólisis ampollosa simple sin afectación extracutánea","synonyms":["EAS sin afectación extracutánea"]},"it":{"name":"Epidermolisi bollosa semplice senza coinvolgimento extracutaneo","synonyms":["EBS senza coinvolgimento extracutaneo"]},"nl":{"name":"Epidermolysis bullosa simplex zonder extracutane betrokkenheid","synonyms":["EBS zonder extracutane betrokkenheid"]},"pt":{"name":"Epidermólise bolhosa simples sem envolvimento extracutâneo","synonyms":["EBS sem envolvimento extracutâneo"]},"pl":{"name":"Postać prosta pęcherzowego oddzielania się naskórka bez zmian pozaskórnych","synonyms":["EBS without extracutaneous involvement"]},"cs":{"name":"Epidermolysis bullosa simplex bez extrakutánního postižení","synonyms":["EBS without extracutaneous involvement"]},"uk":{"name":"Простий бульозний епідермоліз без позашкірного ураження","synonyms":["EBS без позашкірного втручання"]},"zh":{"name":"Epidermolysis bullosa simplex without extracutaneous involvement","synonyms":["EBS without extracutaneous involvement"]},"tr":{"name":"Epidermolysis bullosa simplex without extracutaneous involvement","synonyms":["EBS without extracutaneous involvement"]}},"xrefs":[{"source":"UMLS","code":"C5680282","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":79399,"name":"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form","type":"Disease"},{"orpha":79396,"name":"Autosomal dominant generalized epidermolysis bullosa simplex, severe form","type":"Disease"},{"orpha":89838,"name":"Autosomal recessive generalized epidermolysis bullosa simplex","type":"Disease"},{"orpha":412181,"name":"Epidermolysis bullosa simplex due to BP230 deficiency","type":"Disease"},{"orpha":412189,"name":"Epidermolysis bullosa simplex due to exophilin 5 deficiency","type":"Disease"},{"orpha":158681,"name":"Epidermolysis bullosa simplex with circinate migratory erythema","type":"Disease"},{"orpha":79397,"name":"Epidermolysis bullosa simplex with mottled pigmentation","type":"Disease"},{"orpha":79400,"name":"Localized epidermolysis bullosa simplex","type":"Disease"},{"orpha":79401,"name":"PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}