{"orpha":730406,"name":"Genetic syndrome with a posterior fossa cystic malformation as a major feature","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-730406/","orphanet_url":"https://www.orpha.net/en/disease/detail/730406","names":{"fr":{"name":"Syndrome génétique avec une malformation kystique de la fosse postérieure comme manifestation majeure"},"de":{"name":"Genetisches Syndrom mit zystischer Fehlbildung der Fossa posterior als Hauptmerkmal"},"es":{"name":"Síndrome genético con malformación quística de la fosa posterior como característica principal"},"it":{"name":"Sindrome genetica con malformazione cistica della fossa posteriore come caratteristica principale"},"nl":{"name":"Genetisch syndroom met cysteuze malformatie van fossa cranialis posterior als hoofdkenmerk","synonyms":["Genetisch syndroom met cysteuze malformatie van achterste schedelgroeve als hoofdkenmerk"]},"pt":{"name":"Genetic syndrome with a posterior fossa cystic malformation as a major feature"},"pl":{"name":"Genetic syndrome with a posterior fossa cystic malformation as a major feature"},"cs":{"name":"Genetic syndrome with a posterior fossa cystic malformation as a major feature"}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":730390,"name":"Genetic posterior fossa cystic malformation","classifications":[156]}],"children":[{"orpha":370022,"name":"Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome","type":"Disease"},{"orpha":269570,"name":"Genetic syndrome with a Dandy-Walker malformation as a major feature","type":"Category"},{"orpha":401959,"name":"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome","type":"Malformation syndrome"},{"orpha":2703,"name":"Port-wine nevi-mega cisterna magna-hydrocephalus syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}