{"_id":"MONDO:0018026","_version":1,"ctd":{"chemical_related_to_disease":{"chemical_name":"diepoxybutane","direct_evidence":"marker/mechanism","mesh_chemical_id":"C007366","pubmed":"25633853","source":"CTD"},"mesh":"D057891"},"hpo":{"disease_name":"Tetraploidy syndrome","orphanet":"3305","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000126","orphanet_refs":"orphanet:3305"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000175","orphanet_refs":"orphanet:3305"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000252","orphanet_refs":"orphanet:3305"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000322","orphanet_refs":"orphanet:3305"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000347","orphanet_refs":"orphanet:3305"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000384","orphanet_refs":"orphanet:3305"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000444","orphanet_refs":"orphanet:3305"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001511","orphanet_refs":"orphanet:3305"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002308","orphanet_refs":"orphanet:3305"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002916","orphanet_refs":"orphanet:3305"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0006433","orphanet_refs":"orphanet:3305"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0004422","orphanet_refs":"orphanet:3305"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0006703","orphanet_refs":"orphanet:3305"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0008056","orphanet_refs":"orphanet:3305"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0008678","orphanet_refs":"orphanet:3305"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0010515","orphanet_refs":"orphanet:3305"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0100720","orphanet_refs":"orphanet:3305"}]},"mondo":{"ancestors":["MONDO:0700096","MONDO:0019934","MONDO:7770009","MONDO:0000001","MONDO:0019040","MONDO:7770008"],"definition":"The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages. [MESH:D057891]","label":"tetraploidy syndrome","mondo":"MONDO:0018026","parents":["MONDO:0019934"],"synonym":{"exact":["tetraploidy"]},"xrefs":{"gard":["0005151"],"icd11":["foundation:1705084192"],"medgen":["163193"],"mesh":["D057891"],"orphanet":["3305"],"sctid":["726363000"],"umls":["C0795884"]}},"original_id":["orphanet:3305","UMLS:C0333694"],"umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"D057891","preferred":"D057891"},"nci":{"non-preferred":"C28450","preferred":"C28450"},"snomed":{"non-preferred":["726363000","62749002"],"preferred":["726363000","62749002"]},"umls":"C0333694"}}