{"orpha":519276,"name":"Anterior segment developmental anomaly with extraocular manifestations","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-519276/","orphanet_url":"https://www.orpha.net/en/disease/detail/519276","names":{"fr":{"name":"Anomalie du développement du segment antérieur de l'oeil avec manifestations extra-oculaires"},"de":{"name":"Entwicklungsanomalie des vorderen Augensegmentes mit extraokulären Manifestationen"},"es":{"name":"Anomalía del desarrollo del segmento anterior con manifestaciones extraoculares"},"it":{"name":"Anomalie dello sviluppo del segmento anteriore dell'occhio con manifestazioni extraoculari"},"nl":{"name":"Ontwikkelingsanomalie van voorste oogsegment met extraoculaire manifestaties"},"pt":{"name":"Anomalia do desenvolvimento do segmento anterior com manifestações extra-oculares"},"pl":{"name":"Wada rozwojowa przedniego odcinka oka z objawami zewnątrzgałkowymi"},"cs":{"name":"Vývojová abnormalita předního segmentu s extraokulárními projevy"},"uk":{"name":"Аномалія розвитку переднього сегмента з екстраочними проявами"},"zh":{"name":"眼前节发育异常伴眼外症状"},"tr":{"name":"Göz dışı belirtilerle seyreden anterior gelişim anormalliği"}},"xrefs":[{"source":"MONDO","code":"0850008","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681394","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":88632,"name":"Anterior segment developmental anomaly","classifications":[147,189]},{"orpha":522540,"name":"Anterior segment developmental anomaly of genetic origin","classifications":[156]}],"children":[{"orpha":52,"name":"Alagille syndrome","type":"Malformation syndrome"},{"orpha":782,"name":"Axenfeld-Rieger syndrome","type":"Malformation syndrome"},{"orpha":195,"name":"Cat-eye syndrome","type":"Malformation syndrome"},{"orpha":52055,"name":"Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome","type":"Malformation syndrome"},{"orpha":96125,"name":"Distal deletion 6p syndrome","type":"Malformation syndrome"},{"orpha":2090,"name":"GMS syndrome","type":"Malformation syndrome"},{"orpha":2321,"name":"Jung syndrome","type":"Malformation syndrome"},{"orpha":139450,"name":"Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome","type":"Malformation syndrome"},{"orpha":709,"name":"Peters plus syndrome","type":"Malformation syndrome"},{"orpha":2670,"name":"Pierson syndrome","type":"Malformation syndrome"},{"orpha":3163,"name":"SHORT syndrome","type":"Malformation syndrome"},{"orpha":506307,"name":"Stromme syndrome","type":"Malformation syndrome"},{"orpha":98557,"name":"Syndromic aniridia","type":"Category"},{"orpha":1473,"name":"Uveal coloboma-cleft lip and palate-intellectual disability","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}