{"orpha":261572,"name":"OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":["OBSOLETE: Blepharophimosis types 1 and 2 due to a point mutation"],"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-261572/","orphanet_url":"https://www.orpha.net/en/disease/detail/261572","names":{"fr":{"name":"OBSOLETE : Syndrome de blépharophimosis-ptosis-épicanthus inversus dû à une mutation ponctuelle","synonyms":["OBSOLETE : Blépharophimosis types 1 et 2 dus à une mutation ponctuelle"]},"de":{"name":"OBSOLET: Blepharophimose-Syndrom mit Epicanthus inversus und Ptosis durch Punktmutationen","synonyms":["OBSOLET: Blepharophimose Typ 1 und 2 durch Punktmutationen"]},"es":{"name":"OBSOLETO: Síndrome de blefarofimosis-epicanto inverso-ptosis por una mutación puntual","synonyms":["OBSOLETO: Blefarofimosis tipos 1 y 2 por una mutación puntual"]},"it":{"name":"OBSOLETO: Sindrome blefarofimosi-epicanto inverso-ptosi da mutazione puntiforme","synonyms":["OBSOLETO: Blefarofimosi tipi 1 e 2 da mutazione puntiforme"]},"nl":{"name":"OBSOLEET: Blefarofimose - epicanthus inversus - ptose door een puntmutatie-syndroom","synonyms":["OBSOLEET: Blefarofimose types 1 en 2 door een puntmutatie"]},"pt":{"name":"OBSOLETO: Blefarofimose-epicanto inverso-ptose por síndrome de mutação pontual"},"pl":{"name":"NIEAKTUALNE: Zwezenie szpary powiekowej - odwrócona zmarszczka nakatna - ptoza z powodu mutacji punktowej","synonyms":["NIEAKTUALNE: Zwężenie szpary powiekowej typu 1 i 2 z powodu mutacji punktowej"]},"cs":{"name":"NEAKTUÁLNÍ: Syndrom zahrnující blefarofimózu, epikantus inversus a ptózu, způsobený bodovou mutací","synonyms":["NEAKTUÁLNÍ: Blefarofimóza, typy 1 a 2, způsobené bodovou mutací"]},"uk":{"name":"ЗАСТАРІЛО: Синдром блефарофімозу-зворотнього епіканту-птозу, зумовлений точковою мутацією","synonyms":["ЗАСТАРІЛО: Блефарофімоз типів 1 і 2, спричинений точковою мутацією"]},"zh":{"name":"弃用：点突变所致睑裂狭小-上睑下垂-倒向型内眦赘皮综合征","synonyms":["点突变所致睑裂狭小1型和2型"]},"tr":{"name":"Eski adı: Nokta mutasyon sendromuna bağlı blefarofimoz-epikantus inversus-pitozis","synonyms":["Nokta mutasyonu'na bağlı 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}