{"orpha":98566,"name":"Syndromic eyelid coloboma","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Syndromic palpebral coloboma"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-98566/","orphanet_url":"https://www.orpha.net/en/disease/detail/98566","names":{"fr":{"name":"Colobome de la paupière syndromique","synonyms":["Colobome palpébral syndromique"]},"de":{"name":"Kolobom, palpebrales syndromales"},"es":{"name":"Coloboma palpebral sindrómico"},"it":{"name":"Coloboma palpebrale sindromico"},"nl":{"name":"Syndromaal palpebraal coloboom"},"pt":{"name":"Coloboma palpebrar sindromático"},"pl":{"name":"Syndromiczna szczelina powiek","synonyms":["Syndromic palpebral coloboma"]},"cs":{"name":"Syndromy s kolobomy víček","synonyms":["Syndromic palpebral coloboma"]},"uk":{"name":"Синдромальна колобома повік","synonyms":["Синдромальна пальпебральна колобома"]},"zh":{"name":"综合征性睑缺损","synonyms":["综合征性睑缺损"]},"tr":{"name":"Sendromik göz kapağı kolobomu","synonyms":["Sendromik palpebral kolobom"]}},"xrefs":[{"source":"UMLS","code":"C5680328","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98564,"name":"Eyelid border anomaly","classifications":[147,156,189]}],"children":[{"orpha":1234,"name":"Bartsocas-Papas syndrome","type":"Malformation syndrome"},{"orpha":1791,"name":"Frontofacionasal dysplasia","type":"Malformation syndrome"},{"orpha":245,"name":"Nager syndrome","type":"Malformation syndrome"},{"orpha":2399,"name":"Nasopalpebral lipoma-coloboma syndrome","type":"Malformation syndrome"},{"orpha":2717,"name":"Oculotrichoanal syndrome","type":"Malformation syndrome"},{"orpha":246,"name":"Postaxial acrofacial dysostosis","type":"Malformation syndrome"},{"orpha":861,"name":"Treacher-Collins syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}