{"orpha":519272,"name":"Structural developmental eye defect","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-519272/","orphanet_url":"https://www.orpha.net/en/disease/detail/519272","names":{"fr":{"name":"Anomalie du développement structurel de l'oeil"},"de":{"name":"Strukturelle Augenentwicklungsstörung"},"es":{"name":"Defecto del desarrollo de la estructura del ojo"},"it":{"name":"Difetto strutturale dello sviluppo dell'occhio"},"nl":{"name":"Structureel ontwikkelingsdefect van oog"},"pt":{"name":"Defeito no desenvolvimento estrutural do olho"},"pl":{"name":"Strukturalna wada rozwojowa gałki ocznej"},"cs":{"name":"Strukturní vývojový defekt oka"},"uk":{"name":"Структурна вада розвитку ока"},"zh":{"name":"结构性发育性眼球缺陷"},"tr":{"name":"Yapısal gelişimsel göz defekti"}},"xrefs":[{"source":"UMLS","code":"C5681382","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":108985,"name":"OBSOLETE: Non-syndromic developmental defect of the eye","status":"inactive"},{"type":"Referred to","orpha":108987,"name":"OBSOLETE: Syndromic developmental defect of the eye","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98553,"name":"Developmental defect of the eye","classifications":[147]},{"orpha":520814,"name":"Rare disorder of the visual organs","classifications":[189]}],"children":[{"orpha":468672,"name":"Colobomatous macrophthalmia-microcornea syndrome","type":"Disease"},{"orpha":519384,"name":"Congenital cystic eye","type":"Morphological anomaly"},{"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"},{"orpha":729761,"name":"Sandestig-Stefanova syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}