{"orpha":216989,"name":"Autosomal dominant dystrophic epidermolysis bullosa, Pasini type","type":"Clinical subtype","group":"Subtype of disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["DDEB, Pasini type"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant generalized dystrophic epidermolysis bullosa","url":"https://raremap.alftech.space/d/ORPHA-216989/","orphanet_url":"https://www.orpha.net/en/disease/detail/216989","names":{"fr":{"name":"Epidermolyse bulleuse dystrophique autosomique dominante, type Pasini","synonyms":["EBDD type Pasini"]},"de":{"name":"Epidermolysis bullosa, dystrophe, autosomal-dominante, Typ Pasini"},"es":{"name":"Epidermólisis ampollosa distrófica autosómica dominante tipo Pasini","synonyms":["Epidermólisis bullosa distrófica autosómica dominante tipo Pasini"]},"it":{"name":"Epidermolisi bollosa distrofica, autosomica dominante, tipo Pasini","synonyms":["DDEB, tipo Pasini"]},"nl":{"name":"Autosomale dominante dystrofische epidermolysis bullosa, Pasini-type","synonyms":["DDEB, Pasini-type"]},"pt":{"name":"Epidermólise bolhosa distrófica autossómica dominante, tipo Pasini"},"pl":{"name":"Autosomalne dominujące pęcherzowe oddzielanie się naskórka postać dystroficzna, typ Pasiniego","synonyms":["DDEB, typ Pasiniego"]},"cs":{"name":"Autozomálně dominantní epidermolysis bullosa, Pasiniho typ","synonyms":["DDEB, Pasiniho typ"]},"uk":{"name":"Аутосомно-домінантний бульозний дистрофічний епідермоліз, тип Пасіні","synonyms":["DDEB, тип Пазіні"]},"zh":{"name":"Pasini型常染色体显性遗传营养不良大疱性表皮松解","synonyms":["Pasini型DDEB"]},"tr":{"name":"Otozomal dominant distrofik epidermolizis bülloza, Pasini tipi","synonyms":["DDEB, Pasini tipi"]}},"xrefs":[{"source":"UMLS","code":"C0432322","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":231568,"name":"Autosomal dominant generalized dystrophic epidermolysis bullosa"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}