{"orpha":519333,"name":"Congenital optic disc excavation","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-519333/","orphanet_url":"https://www.orpha.net/en/disease/detail/519333","names":{"fr":{"name":"Excavation papillaire congénitale"},"de":{"name":"Kongenitale Exkavation der Sehnervenpapille"},"es":{"name":"Excavación congénita del disco óptico"},"it":{"name":"Escavazione congenita del disco ottico"},"nl":{"name":"Congenitale papilexcavatie"},"pt":{"name":"Disco óptico com escavação congénita"},"pl":{"name":"Wrodzone zagłębienie tarczy nerwu wzrokowego"},"cs":{"name":"Vrozená exkavace terče zrakového nervu"},"uk":{"name":"Вроджена екскавація диска зорового нерва"},"zh":{"name":"先天性视神经盘陷凹"},"tr":{"name":"Doğumsal optik disk çukurluğu"}},"xrefs":[{"source":"MONDO","code":"0850010","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681348","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98553,"name":"Developmental defect of the eye","classifications":[147]},{"orpha":519351,"name":"Rare optic nerve disorder","classifications":[189]}],"children":[{"orpha":98947,"name":"Coloboma of optic disc","type":"Morphological anomaly"},{"orpha":464760,"name":"Familial cavitary optic disc anomaly","type":"Morphological anomaly"},{"orpha":519402,"name":"Isolated megalopapilla","type":"Morphological anomaly"},{"orpha":35737,"name":"Morning glory disc anomaly","type":"Morphological anomaly"},{"orpha":519404,"name":"Optic disc pit","type":"Morphological anomaly"},{"orpha":519400,"name":"Peripapillary staphyloma","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}