{"orpha":522536,"name":"Structural developmental eye defect 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-522536/","orphanet_url":"https://www.orpha.net/en/disease/detail/522536","names":{"fr":{"name":"Anomalie du développement structurel de l'oeil d'origine génétique"},"de":{"name":"Genetisch bedingte strukturelle Augenentwicklungsstörung"},"es":{"name":"Defecto del desarrollo de la estructura del ojo de origen genético"},"it":{"name":"Difetto strutturale dello sviluppo dell'occhio di origine genetica"},"nl":{"name":"Structureel ontwikkelingsdefect van oog van genetische oorsprong"},"pt":{"name":"Defeito do desenvolvimento estrutural do olho de origem genética"},"pl":{"name":"Strukturalna wada rozwojowa oka uwarunkowana genetycznie"},"cs":{"name":"Geneticky podmíněná strukturní vývojová oční vada"},"uk":{"name":"Генетично обумовлена структурна вада розвитку очей"},"zh":{"name":"遗传性结构性眼球发育缺陷"},"tr":{"name":"Genetik kaynaklı yapısal gelişimsel göz defekti"}},"xrefs":[{"source":"UMLS","code":"C5681423","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":522504,"name":"Rare genetic disorder of the visual organs","classifications":[156]}],"children":[{"orpha":468672,"name":"Colobomatous macrophthalmia-microcornea syndrome","type":"Disease"},{"orpha":363396,"name":"High myopia-sensorineural deafness syndrome","type":"Disease"},{"orpha":2484,"name":"Melnick-Needles syndrome","type":"Malformation syndrome"},{"orpha":98555,"name":"Microphthalmia-anophthalmia-coloboma","type":"Category"},{"orpha":659904,"name":"Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}