{"orpha":183557,"name":"Genetic developmental defect of the eye","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-183557/","orphanet_url":"https://www.orpha.net/en/disease/detail/183557","names":{"fr":{"name":"Anomalie du développement de l'oeil d'origine génétique","synonyms":["Anomalie du développement des yeux d'origine génétique"]},"de":{"name":"Entwicklungsstörung der Augen, genetisch bedingte"},"es":{"name":"Trastorno de origen genético en el desarrollo de los ojos"},"it":{"name":"Difetto dello sviluppo genetico dell'occhio"},"nl":{"name":"Genetisch ontwikkelingsdefect van oog"},"pt":{"name":"Anomalia do desenvolvimento ocular, genética"},"pl":{"name":"Wada rozwojowa oka uwarunkowana genetycznie"},"cs":{"name":"Geneticky podmíněné poruchy vývoje oka"},"uk":{"name":"Генетично обумовлена вада розвитку ока"},"zh":{"name":"遗传性眼发育缺陷"},"tr":{"name":"Gözün genetik gelişimsel defekti"}},"xrefs":[{"source":"UMLS","code":"C5680550","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183530,"name":"Rare genetic developmental defect during embryogenesis","classifications":[156]}],"children":[{"orpha":88632,"name":"Anterior segment developmental anomaly","type":"Category"},{"orpha":522540,"name":"Anterior segment developmental anomaly of genetic origin","type":"Category"},{"orpha":98942,"name":"Coloboma of choroid and retina","type":"Morphological anomaly"},{"orpha":98943,"name":"Coloboma of eye lens","type":"Morphological anomaly"},{"orpha":98945,"name":"Coloboma of macula","type":"Morphological anomaly"},{"orpha":53691,"name":"Congenital cornea plana","type":"Morphological anomaly"},{"orpha":522514,"name":"Congenital optic disc excavation of genetic origin","type":"Category"},{"orpha":83461,"name":"Congenital primary aphakia","type":"Malformation syndrome"},{"orpha":98635,"name":"Corneodysgenesis","type":"Category"},{"orpha":91492,"name":"Early onset non-syndromic cataract","type":"Disease"},{"orpha":525677,"name":"Genetic congenital malformation of the eye with glaucoma as a major feature","type":"Category"},{"orpha":637064,"name":"Isolated optic nerve aplasia","type":"Morphological anomaly"},{"orpha":637061,"name":"Isolated optic nerve hypoplasia","type":"Morphological anomaly"},{"orpha":522534,"name":"Lacrimal drainage system anomaly of genetic origin","type":"Category"},{"orpha":522552,"name":"Lens position anomaly of genetic origin","type":"Category"},{"orpha":98655,"name":"Lens shape anomaly","type":"Category"},{"orpha":522550,"name":"Lens size anomaly of genetic origin","type":"Category"},{"orpha":91494,"name":"Macular coloboma-cleft palate-hallux valgus syndrome","type":"Malformation syndrome"},{"orpha":156005,"name":"Primary early-onset glaucoma","type":"Clinical group"},{"orpha":519345,"name":"Rare disorder with optic disc malformation","type":"Category"},{"orpha":98594,"name":"Rare eyebrow/eyelash disorder","type":"Category"},{"orpha":522526,"name":"Rare genetic palpebral disorder","type":"Category"},{"orpha":1471,"name":"Sorsby syndrome","type":"Malformation syndrome"},{"orpha":522536,"name":"Structural developmental eye defect of genetic origin","type":"Category"},{"orpha":137905,"name":"Syndromic optic nerve hypoplasia","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}