{"orpha":269224,"name":"Global cerebellar malformation","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Diffuse cerebellar malformation"],"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-269224/","orphanet_url":"https://www.orpha.net/en/disease/detail/269224","names":{"fr":{"name":"Malformation cérébelleuse globale","synonyms":["Malformation cérébelleuse diffuse"]},"de":{"name":"Zerebelläre Fehlbildung, globale","synonyms":["Zerebelläre Fehlbildung, diffuse"]},"es":{"name":"Malformación global del cerebelo","synonyms":["Malformación difusa del cerebelo"]},"it":{"name":"Malformazione cerebellare globale","synonyms":["Malformazione cerebellare diffusa"]},"nl":{"name":"Algemene cerebellaire malformatie","synonyms":["Diffuse cerebellaire malformatie"]},"pt":{"name":"Malformação cerebelosa global","synonyms":["Malformação cerebelosa difusa"]},"pl":{"name":"Całkowita malformacja móżdżku","synonyms":["Rozlana malformacja móżdżku"]},"cs":{"name":"Globální malformace mozečku","synonyms":["Difuzní cerebelární malformace"]},"uk":{"name":"Глобальна вада розвитку мозочка","synonyms":["Дифузна мальформація мозочка"]},"zh":{"name":"全小脑畸形","synonyms":["全小脑畸形"]},"tr":{"name":"Yaygın serebellar malformasyon","synonyms":["Yaygın serebellar malformasyon"]}},"xrefs":[{"source":"MONDO","code":"17114","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679773","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":729527,"name":"Isolated cerebellar malformation","classifications":[147,181]}],"children":[{"orpha":1398,"name":"Isolated cerebellar agenesis","type":"Morphological anomaly"},{"orpha":727803,"name":"Isolated global cerebellar hypoplasia","type":"Morphological anomaly"}],"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}