{"_id":"MONDO:0009072","_version":1,"ctd":{"chemical_related_to_disease":[{"cas_registry_number":"99-66-1","chemical_name":"Valproic Acid","direct_evidence":"marker/mechanism","mesh_chemical_id":"D014635","pubmed":"1574164","source":"CTD"},{"cas_registry_number":"81-81-2","chemical_name":"Warfarin","direct_evidence":"marker/mechanism","mesh_chemical_id":"D014859","pubmed":"4082063","source":"CTD"}],"mesh":"D003616"},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:2786","DOID:331","DOID:4","DOID:936","DOID:863","DOID:7"],"children":[],"def":"\"A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.\" [url:http\\://omim.org/entry/220200, url:https\\://en.wikipedia.org/wiki/Dandy-Walker_syndrome, url:https\\://ghr.nlm.nih.gov/condition/dandy-walker-malformation]","descendants":[],"doid":"DOID:2785","name":"Dandy-Walker syndrome","parents":["DOID:2786"],"synonyms":{"exact":["Atresia of foramina of Magendie and Luschka"]},"xrefs":{"gard":"6242","icd10":"Q03.1","mesh":"D003616","mim":"220200","ncit":"C75012","snomedct_us_2025_09_01":"14447001","umls_cui":"C0010964"}},"hpo":[{"disease_name":"Dandy-Walker syndrome","inheritance":{"biocuration":{"date":"2017-07-13","name":"HPO:skoehler"},"evidence":"TAS","hpo_id":"HP:0003745","hpo_name":"Sporadic","omim_refs":"OMIM:220200","original_disease_id":"OMIM:220200"},"omim":"220200","phenotype_related_to_disease":[{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0006824","omim_refs":"OMIM:220200","original_disease_id":"OMIM:220200"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002078","omim_refs":"OMIM:220200","original_disease_id":"OMIM:220200"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000639","omim_refs":"OMIM:220200","original_disease_id":"OMIM:220200"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002198","omim_refs":"OMIM:220200","original_disease_id":"OMIM:220200"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000238","omim_refs":"OMIM:220200","original_disease_id":"OMIM:220200"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000931","omim_refs":"OMIM:220200","original_disease_id":"OMIM:220200"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000933","omim_refs":"OMIM:220200","original_disease_id":"OMIM:220200"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000930","omim_refs":"OMIM:220200","original_disease_id":"OMIM:220200"},{"biocuration":{"date":"2012-06-10","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0002951","omim_refs":"OMIM:220200","original_disease_id":"OMIM:220200"},{"biocuration":{"date":"2012-06-10","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0002335","omim_refs":"OMIM:220200","original_disease_id":"OMIM:220200"}]},{"disease_name":"Isolated Dandy-Walker malformation","orphanet":"217","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000238","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000256","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000269","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001305","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002691","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001321","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002007","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002198","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0005445","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0006817","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0010952","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0011427","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000175","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001249","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001270","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002084","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002516","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0007370","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0000639","orphanet_refs":"orphanet:217"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0002078","orphanet_refs":"orphanet:217"}]}],"mondo":{"ancestors":["MONDO:0019755","MONDO:7770007","MONDO:0020022","MONDO:0005560","MONDO:0700096","MONDO:0020134","MONDO:0021147","MONDO:0000001","MONDO:0002427","MONDO:0005071","MONDO:0002602","MONDO:7770006"],"children":["MONDO:0017110","MONDO:0017111","MONDO:0022930"],"definition":"Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia. [Orphanet:217]","descendants":["MONDO:0017111","MONDO:0017110","MONDO:0022930"],"label":"Dandy-Walker syndrome","mondo":"MONDO:0009072","parents":["MONDO:0002427","MONDO:0020134"],"synonym":{"exact":["Dandy Walker Malformation","Dandy-Walker syndrome","Dandy-Walker syndrome, Isolated cases"],"related":["Dandy-Walker complex","Dandy-Walker syndrome or malformation (type of DW complex)","Dandy-Walker variant (type of DW complex)","DW complex","DWS","mega cisterna magna (type of DW complex)"]},"xrefs":{"doid":["DOID:2785"],"efo":["EFO:1000890"],"gard":["0006242"],"icd11":["foundation:993088960"],"meddra":["10048411"],"medgen":["4150"],"mesh":["D003616"],"nando":["2200821"],"ncit":["C75012"],"nord":["1032"],"omim":["220200"],"orphanet":["217"],"sctid":["14447001"],"umls":["C0010964"]}},"original_id":["orphanet:217","UMLS:C0010964","UMLS:C2931867"],"umls":[{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10cm":{"preferred":"Q03.1"},"mesh":{"non-preferred":"D003616","preferred":"D003616"},"nci":{"non-preferred":"C75012","preferred":"C75012"},"snomed":{"non-preferred":["204063009","14447001"],"preferred":["204063009","14447001"]},"umls":"C0010964"},{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10":{"non-preferred":"Q03.1"},"icd10am":{"non-preferred":"Q03.1"},"icd10cm":{"non-preferred":"Q03.1"},"mesh":{"non-preferred":"C538507"},"umls":"C2931867"}]}