{"orpha":519345,"name":"Rare disorder with optic disc malformation","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-519345/","orphanet_url":"https://www.orpha.net/en/disease/detail/519345","names":{"fr":{"name":"Maladie rare avec malformation de la papille optique"},"de":{"name":"Seltene Erkrankung mit Fehlbildung der Sehnervenpapille"},"es":{"name":"Trastorno raro con malformación del disco óptico"},"it":{"name":"Malattia rara con malformazione del disco ottico"},"nl":{"name":"Zeldzame aandoening met malformatie van papil"},"pt":{"name":"Doença rara com malformação do disco óptico"},"pl":{"name":"Choroba rzadka z malformacją tarczy nerwu wzrokowego"},"cs":{"name":"Vzácná porucha s malformací terče zrakového nervu"},"uk":{"name":"Рідкісний розлад з аномалією диска зорового нерва"},"zh":{"name":"伴有视神经盘畸形的罕见眼科疾病"},"tr":{"name":"Optik disk malformasyonu ile seyreden nadir bozukluk"}},"xrefs":[{"source":"UMLS","code":"C5681361","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":519357,"name":"OBSOLETE: Syndromic malformation of the optic disc","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98553,"name":"Developmental defect of the eye","classifications":[147]},{"orpha":183557,"name":"Genetic developmental defect of the eye","classifications":[156]},{"orpha":522512,"name":"Rare genetic optic nerve disorder","classifications":[156]},{"orpha":519351,"name":"Rare optic nerve disorder","classifications":[189]}],"children":[{"orpha":435930,"name":"Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome","type":"Disease"},{"orpha":52055,"name":"Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome","type":"Malformation syndrome"},{"orpha":1475,"name":"Renal coloboma syndrome","type":"Malformation syndrome"},{"orpha":324737,"name":"SRD5A3-CDG","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}