{"orpha":522514,"name":"Congenital optic disc excavation of genetic origin","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-522514/","orphanet_url":"https://www.orpha.net/en/disease/detail/522514","names":{"fr":{"name":"Excavation papillaire congénitale d'origine génétique"},"de":{"name":"Kongenitale Exkavation der Sehnervenpapille mit genetischer Ursache"},"es":{"name":"Excavación congénita del disco óptico de origen genético"},"it":{"name":"Escavazione congenita del disco ottico di origine genetica"},"nl":{"name":"Congenitale papilexcavatie van genetische oorsprong"},"pt":{"name":"Disco óptico com escavação congénita de origem genética"},"pl":{"name":"Wrodzone zagłębienie tarczy nerwu wzrokowego uwarunkowane genetycznie"},"cs":{"name":"Vrozená geneticky podmíněná exkavace terče zrakového nervu"},"uk":{"name":"Вроджена генетично обумовлена екскавація диска зорового нерва"},"zh":{"name":"遗传性先天性视盘凹陷"},"tr":{"name":"Genetik kaynaklı doğumsal optik disk kazısı"}},"xrefs":[{"source":"UMLS","code":"C5681433","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":183557,"name":"Genetic developmental defect of the eye","classifications":[156]},{"orpha":522512,"name":"Rare genetic optic nerve disorder","classifications":[156]}],"children":[{"orpha":98947,"name":"Coloboma of optic disc","type":"Morphological anomaly"},{"orpha":464760,"name":"Familial cavitary optic disc anomaly","type":"Morphological anomaly"},{"orpha":35737,"name":"Morning glory disc anomaly","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}