{"orpha":525677,"name":"Genetic congenital malformation of the eye with glaucoma as a major feature","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-525677/","orphanet_url":"https://www.orpha.net/en/disease/detail/525677","names":{"fr":{"name":"Malformation congénitale génétique de l'oeil avec glaucome comme manifestation majeure"},"de":{"name":"Genetisch bedingte kongenitale Fehlbildung des Auges mit Glaukom als Hauptmerkmal"},"es":{"name":"Malformación congénita genética del ojo con glaucoma como característica principal"},"it":{"name":"Malformazione congenita dell'occhio di origine genetica con glaucoma come segno maggiore"},"nl":{"name":"Genetische congenitale malformatie van oog met glaucoom als hoofdkenmerk"},"pt":{"name":"Malformação do olho congénita genética com glaucoma como característica principal"},"pl":{"name":"Wrodzona malformacja oka uwarunkowana genetycznie, której objawem dominującym jest jaskra"},"cs":{"name":"Geneticky podmíněný sekundární glaukom na podkladě dysgeneze genetického původu"},"uk":{"name":"Генетично обумовлена вроджена вада розвитку ока, основною ознакою якої є глаукома"},"zh":{"name":"以青光眼为主要特征的遗传性先天性眼畸形"},"tr":{"name":"Esas klinik özelliği glokom olan gözün genetik doğumsal malformasyonu"}},"xrefs":[{"source":"UMLS","code":"C5681398","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183557,"name":"Genetic developmental defect of the eye","classifications":[156]},{"orpha":522580,"name":"Secondary early-onset glaucoma of genetic origin","classifications":[156]}],"children":[{"orpha":98634,"name":"Anterior segment developmental anomaly without extraocular manifestations","type":"Category"},{"orpha":190,"name":"Coats disease","type":"Disease"},{"orpha":238763,"name":"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea","type":"Malformation syndrome"},{"orpha":64734,"name":"Iridocorneal endothelial syndrome","type":"Disease"},{"orpha":98973,"name":"Posterior polymorphous corneal dystrophy","type":"Disease"},{"orpha":792,"name":"X-linked retinoschisis","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}