{"orpha":91411,"name":"Congenital ptosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital ptosis is characterized by superior eyelid drop present at birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91411/","orphanet_url":"https://www.orpha.net/en/disease/detail/91411","names":{"fr":{"name":"Ptosis congénital","definition":"Maladie caractérisée par une chute de la paupière supérieure présente à la naissance."},"de":{"name":"Ptosis, kongenitale","definition":"Die kongenitale Ptose ist gekennzeichnet durch seit der Geburt bestehendes Herabsinken der Oberlider."},"es":{"name":"Ptosis congénita","definition":"La ptosis congénita se caracteriza por la caída de los párpados superiores presente desde el nacimiento."},"it":{"name":"Ptosi congenita","definition":"La ptosi congenita è caratterizzata da abbassamento della palpebra superiore presente sin dalla nascita."},"nl":{"name":"Congenitale ptosis","synonyms":["Congenitale ptose"],"definition":"Congenitale ptose wordt gekarakteriseerd door de aanwezigheid van afhangende bovenste oogleden bij de geboorte."},"pt":{"name":"Ptose congénita"},"pl":{"name":"Opadanie powiek wrodzone","definition":"Wrodzone opadanie powiek charakteryzuje się opadaniem górnej powieki od narodzin."},"cs":{"name":"Vrozená ptóza"},"uk":{"name":"Вроджений птоз","definition":"Congenital ptosis is characterized by superior eyelid drop present at birth."},"zh":{"name":"先天性上睑下垂"},"tr":{"name":"Doğumsal pitozis"}},"xrefs":[{"source":"OMIM","code":"178300","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"300245","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616219","qualifier":"ND","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q10.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA14.04","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1561844189"},{"source":"MONDO","code":"8340","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266573","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10015996","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"ZFHX4","name":"zinc finger homeobox 4","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11935336[PMID]_17987257[PMID]","hgnc":"30939","ensembl":"ENSG00000091656","omim":"606940","loci":["8q21.13"]},{"symbol":"COL25A1","name":"collagen type XXV alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26486031[PMID]_25500261[PMID]","hgnc":"18603","ensembl":"ENSG00000188517","omim":"610004","loci":["4q25"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}