{"orpha":572354,"name":"Blepharophimosis-ptosis-epicanthus inversus syndrome type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["BPES type 1","Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure"],"definition":null,"note":"This disease is described under Blepharophimosis-ptosis-epicanthus inversus syndrome","url":"https://raremap.alftech.space/d/ORPHA-572354/","orphanet_url":"https://www.orpha.net/en/disease/detail/572354","names":{"fr":{"name":"Syndrome de blépharophimosis-ptosis-épicanthus inversus type 1","synonyms":["BPES type 1","Syndrome de blépharophimosis-ptosis-épicanthus inversus avec insuffisance ovarienne précoce"]},"de":{"name":"Blepharophimose-Ptosis-Epicanthus inversus-Syndrom Typ 1","synonyms":["BPES Typ 1","Blepharophimose-Ptosis-Epicanthus inversus-Syndrom mit vorzeitiger Ovarialinsuffizienz"]},"es":{"name":"Síndrome de blefarofimosis-ptosis-epicanto inverso tipo 1","synonyms":["BPES tipo 1","Síndrome de blefarofimosis-ptosis-epicanto inverso con fallo ovárico prematuro"]},"it":{"name":"Sindrome da blefarofimosi, ptosi, epicanto inverso tipo 1","synonyms":["BPES tipo 1","Sindrome da blefarofimosi, ptosi, epicanto inverso con insufficienza ovarica precoce"]},"nl":{"name":"Blefarofimose - ptose - epicanthus inversus-syndroom type 1","synonyms":["BPES type 1","Blefarofimose - ptose - epicanthus inversus-syndroom met prematuur ovariumfalen"]},"pt":{"name":"Síndrome de blefarofimose-ptose-epicanto inverso tipo 1","synonyms":["BPES tipo 1","Síndrome de blefarofimose-ptose-epicantus inverso com falência ovárica prematura"]},"pl":{"name":"Zespół zwężenia szpar powiekowych, opadania powiek i odwróconych fałdów nakątnych typu 1","synonyms":["BPES type 1","Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure"]},"cs":{"name":"Syndrom zahrnující blefarofimózu, ptózu a epicanthus inversus, typ 1","synonyms":["BPES type 1","Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure"]},"uk":{"name":"Синдром блефарофімозу-птозу-зворотнього епікантусу, тип 1","synonyms":["Синдром блефарофімозу-птозу-епікантусу інверсус з передчасною оваріальною недостатністю","BPES тип 1"]},"zh":{"name":"睑裂狭小-上睑下垂-倒转型内眦赘皮综合征1型","synonyms":["BPES type 1","Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure"]},"tr":{"name":"Blefarofimoz-pitoz-epikantus inversus sendromu tip 1","synonyms":["BPES tip 1"]}},"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":"0035524","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680365","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]},{"orpha":399853,"name":"Rare female infertility due to an anomaly of ovarian function","classifications":[201]},{"orpha":400022,"name":"Rare female infertility due to an anomaly of ovarian function of genetic origin","classifications":[156]},{"orpha":485382,"name":"Rare genetic premature ovarian failure","classifications":[156]},{"orpha":95710,"name":"Rare non-acquired premature ovarian failure","classifications":[193,205]}],"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 recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}