{"orpha":269206,"name":"Isolated total cerebellar vermis agenesis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Isolated cerebellar vermis agenesis","url":"https://raremap.alftech.space/d/ORPHA-269206/","orphanet_url":"https://www.orpha.net/en/disease/detail/269206","names":{"fr":{"name":"Agénésie complète isolée du vermis cérébelleux","synonyms":["Agénésie totale isolée du vermis cérébelleux"]},"de":{"name":"Isolierte totale Agenesie des Kleinhirnwurmes"},"es":{"name":"Agenesia aislada total del vermis cerebeloso"},"it":{"name":"Agenesia completa isolata del verme cerebellare"},"nl":{"name":"Geïsoleerde totale cerebellaire vermis-agenesie"},"pt":{"name":"Agenesia do vermis cerebeloso total isolada"},"pl":{"name":"Izolowana całkowita agnezja robaka móżdżku"},"cs":{"name":"Izolovaná totální ageneze mozečkové vermis","synonyms":["Izolovaná totální ageneze vermis mozečku"]},"uk":{"name":"Ізольована тотальна агенезія червяка мозочка"},"zh":{"name":"孤立性全小脑蚓部发育不全"},"tr":{"name":"İzole total serebellar vermis agenezisi"}},"xrefs":[{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017108","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680781","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269203,"name":"Isolated cerebellar vermis agenesis","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}