{"orpha":261579,"name":"OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations","type":"Etiological subtype","group":"Subtype of disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":["OBSOLETE: Blepharophimosis types 1 and 2 due to copy number variations","OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a CNV"],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Blepharophimosis-ptosis-epicanthus inversus syndrome","url":"https://raremap.alftech.space/d/ORPHA-261579/","orphanet_url":"https://www.orpha.net/en/disease/detail/261579","names":{"fr":{"name":"OBSOLETE : Syndrome de blépharophimosis-ptosis-épicanthus inversus dû à un polymorphisme du nombre de copies","synonyms":["OBSOLETE : Blépharophimosis types 1 et 2 dus à la variabilité du nombre de copies","OBSOLETE : Syndrome de blépharophimosis-ptosis-épicanthus inversus dû à un CNV"]},"de":{"name":"OBSOLET: Blepharophimose-Syndrom mit Epicanthus inversus und Ptosis durch polyA-Expansion","synonyms":["OBSOLET: Blepharophimose Typ 1 und 2 durch Kopienzahlvariationen"]},"es":{"name":"OBSOLETO: Blefarofimosis-epicanto inverso-ptosis por variaciones en el número de copias","synonyms":["OBSOLETO: Blefarofimosis tipos 1 y 2 por variaciones en el número de copias","OBSOLETO: Blefarofimosis-epicanto inverso-ptosis por VNC"]},"it":{"name":"OBSOLETO: Blefarofimosi-epicanto inverso-ptosi da variazioni nel numero di copie","synonyms":["OBSOLETO: Blefarofimosi-epicanto inverso-ptosi da CNV","OBSOLETO: Blefarofimosi tipi 1 e 2 da variazioni nel numero di copie"]},"nl":{"name":"OBSOLEET: Blefarofimose - epicanthus inversus - ptose door kopijnummervariaties","synonyms":["OBSOLEET: Blefarofimose - epicanthus inversus - ptose door een CNV","OBSOLEET: Blefarofimose types 1 en 2 door kopijnummervariaties"]},"pt":{"name":"OBSOLETO: Blefarofimose-epicanto inverso-ptose por expansão poliA"},"pl":{"name":"NIEAKTUALNE: Zwezenie szpar powiekowych - odwrócona zmarszczka nakatna - ptoza z powodu ekspansji poliA","synonyms":["NIEAKTUALNE: Zwężenie szpar powiekowych typu 1 i 2 z powodu ekspansji poliA"]},"cs":{"name":"NEAKTUÁLNÍ: Blefarofimóza, epikantus inversus a ptóza způsobené změnou počtu kopií","synonyms":["NEAKTUÁLNÍ: Blefarofimóza, typy 1 a 2, způsobené variabilitou počtu kopií","NEAKTUÁLNÍ: Blefarofimóza, epikantus inversus a ptóza způsobené CNV"]},"uk":{"name":"ЗАСТАРІЛО: Синдром блефарофімозу-зворотнього епіканту-птозу, зумовлений варіацією кількості копій","synonyms":["ЗАСТАРІЛО: Блефарофімоз типів 1 і 2 через варіації кількості копій","ЗАСТАРІЛО: блефарофімоз-епікантус інверсус-птоз внаслідок ХНВ"]},"zh":{"name":"弃用：拷贝数变异所致睑裂狭小-上睑下垂-倒向型内眦赘皮综合征","synonyms":["拷贝数变异所致睑裂狭小1型和2型"]},"tr":{"name":"Eski adı: Kopya sayısı varyasyonlarına bağlı blefarofimoz-epikantus inversus-pitozis","synonyms":["Bir CNV'ye bağlı Blepharophimosis-epicanthus inversus-ptosis","Kopya sayısı varyasyonları nedeniyle Blefarofimoz tipleri 1 ve 2"]}},"xrefs":[],"associations":[{"type":"Referred to","orpha":126,"name":"Blepharophimosis-ptosis-epicanthus inversus syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}