{"orpha":572361,"name":"Blepharophimosis-ptosis-epicanthus inversus syndrome type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["BPES type 2","Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure"],"definition":null,"note":"This disease is described under Blepharophimosis-ptosis-epicanthus inversus syndrome","url":"https://raremap.alftech.space/d/ORPHA-572361/","orphanet_url":"https://www.orpha.net/en/disease/detail/572361","names":{"fr":{"name":"Syndrome de blépharophimosis-ptosis-épicanthus inversus type 2","synonyms":["BPES type 2","Syndrome de blépharophimosis-ptosis-épicanthus inversus sans insuffisance ovarienne précoce"]},"de":{"name":"Blepharophimose-Ptosis-Epicanthus inversus-Syndrom Typ 2","synonyms":["BPES Typ 2","Blepharophimose-Ptosis-Epicanthus inversus-Syndrom ohne vorzeitige Ovarialinsuffizienz"]},"es":{"name":"Síndrome de blefarofimosis-ptosis-epicanto inverso tipo 2","synonyms":["BPES tipo 2","Síndrome de blefarofimosis-ptosis-epicanto inverso sin fallo ovárico prematuro"]},"it":{"name":"Sindrome da blefarofimosi, ptosi, epicanto inverso tipo 2","synonyms":["BPES tipo 2","Sindrome da blefarofimosi, ptosi, epicanto inverso senza insufficienza ovarica precoce"]},"nl":{"name":"Blefarofimose - ptose - epicanthus inversus-syndroom type 2","synonyms":["BPES type 2","Blefarofimose - ptose - epicanthus inversus-syndroom zonder prematuur ovariumfalen"]},"pt":{"name":"Síndrome de blefarofimose-ptose-epicanto inverso tipo 2","synonyms":["BPES tipo 2","Síndrome de blefarofimose-ptose-epicantus inverso sem falência ovárica prematura"]},"pl":{"name":"Zespół zwężenia szpar powiekowych, opadania powiek i odwróconych fałdów nakątnych typu 2","synonyms":["BPES type 2","Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure"]},"cs":{"name":"Syndrom zahrnující blefarofimózu, ptózu a epicanthus inversus, typ 2","synonyms":["BPES type 2","Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure"]},"uk":{"name":"Синдром блефарофімозу-птозу-зворотнього епікантусу, тип 2","synonyms":["Синдром блефарофімозу-птозу-епікантуса без передчасної оваріальної недостатності","BPES тип 2"]},"zh":{"name":"睑裂狭小-上睑下垂-倒转型内眦赘皮综合征2型","synonyms":["BPES type 2","Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure"]},"tr":{"name":"Blefarofimoz-pitoz-epikantus inversus sendromu tip 2","synonyms":["BPES tip 2"]}},"xrefs":[{"source":"OMIM","code":"110100","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q10.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0035525","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680363","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":126,"name":"Blepharophimosis-ptosis-epicanthus inversus syndrome","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"FOXL2","name":"forkhead box L2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30029625[PMID]_31823134[PMID]","hgnc":"1092","ensembl":"ENSG00000183770","omim":"605597","loci":["3q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}