{"orpha":88632,"name":"Anterior segment developmental anomaly","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Anterior segment dysgenesis"],"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-88632/","orphanet_url":"https://www.orpha.net/en/disease/detail/88632","names":{"fr":{"name":"Anomalie du développement du segment antérieur de l'oeil","synonyms":["Dysgénésie du segment antérieur de l'oeil"]},"de":{"name":"Dysgenesie des vorderen Augensegmentes"},"es":{"name":"Anomalía del desarrollo del segmento anterior","synonyms":["Disgenesia del segmento anterior"]},"it":{"name":"Disgenesia mesenchimale familiare del segmento anteriore dell'occhio"},"nl":{"name":"Ontwikkelingsanomalie van voorste oogsegment","synonyms":["Dysgenesie van voorste oogsegment"]},"pt":{"name":"Disgenesia mesenquimatosa do segmento anterior do olho, familiar"},"pl":{"name":"Dysgenezja przedniego odcinka gałki ocznej","synonyms":["Anterior segment dysgenesis"]},"cs":{"name":"Familiární mezenchymální dysgeneze předního očního segmentu","synonyms":["Anterior segment dysgenesis"]},"uk":{"name":"Аномалія розвитку переднього сегмента","synonyms":["Дисгенезія переднього сегмента"]},"zh":{"name":"眼前节发育异常","synonyms":["眼前节发育不良"]},"tr":{"name":"Anterior segment gelişimsel anomalisi","synonyms":["Anterior segment disgenezi"]}},"xrefs":[{"source":"OMIM","code":"107250","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"617315","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617319","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-11","code":"LA11","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"943599144"},{"source":"MONDO","code":"0019503","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537775","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862839","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10025","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":77,"name":"OBSOLETE: Aniridia","status":"inactive"},{"type":"Referred to","orpha":98633,"name":"OBSOLETE: Goniodysgenesis","status":"inactive"},{"type":"Referred to","orpha":98636,"name":"OBSOLETE: Corneoiridogoniodysgenesis","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98553,"name":"Developmental defect of the eye","classifications":[147]},{"orpha":183557,"name":"Genetic developmental defect of the eye","classifications":[156]},{"orpha":519284,"name":"Rare disorder of the anterior segment of the eye","classifications":[189]},{"orpha":522538,"name":"Rare genetic disorder of the anterior segment of the eye","classifications":[156]}],"children":[{"orpha":519276,"name":"Anterior segment developmental anomaly with extraocular manifestations","type":"Category"},{"orpha":98634,"name":"Anterior segment developmental anomaly without extraocular manifestations","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}