{"orpha":269209,"name":"Isolated partial 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-269209/","orphanet_url":"https://www.orpha.net/en/disease/detail/269209","names":{"fr":{"name":"Agénésie isolée partielle du vermis cérébelleux"},"de":{"name":"Isolierte partielle Agenesie des Kleinhirnwurmes"},"es":{"name":"Agenesia aislada parcial del vermis cerebeloso"},"it":{"name":"Agenesia parziale isolata del verme cerebellare"},"nl":{"name":"Geïsoleerde partiële cerebellaire vermis-agenesie"},"pt":{"name":"Agenesia do vermis cerebeloso parcial isolada"},"pl":{"name":"Izolowana częściowa agnezja robaka móżdżku"},"cs":{"name":"Izolovaná parciální ageneze mozečkové vermis","synonyms":["Izolovaná parciální ageneze vermis mozečku"]},"uk":{"name":"Ізольована часткова агенезія червяка мозочка"},"zh":{"name":"孤立性部分小脑蚓部发育不全"},"tr":{"name":"İzole kısmi serebellar vermis agenezisi"}},"xrefs":[{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017109","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680780","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}