{"orpha":261836,"name":"Partial deletion of chromosome 18 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial monosomy of chromosome 18"],"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-261836/","orphanet_url":"https://www.orpha.net/en/disease/detail/261836","names":{"fr":{"name":"Syndrome de délétion partielle du chromosome 18","synonyms":["Monosomie partielle du chromosome 18"]},"de":{"name":"Chromosom 18-Deletion, partielle","synonyms":["Partielle Monosomie des Chromosoms 18"]},"es":{"name":"Síndrome de deleción parcial del cromosoma 18","synonyms":["Monosomía parcial del cromosoma 18"]},"it":{"name":"Sindrome delezione parziale del cromosoma 18","synonyms":["Monosomia parziale del cromosoma 18"]},"nl":{"name":"Partiële deletie van chromosoom 18-syndroom","synonyms":["Partiële monosomie van chromosoom 18"]},"pt":{"name":"Monossomia parcial do cromossoma 18"},"pl":{"name":"Zespół częściowej delecji chromosomu 18","synonyms":["Cześciowa monosomia chromosomu 18"]},"cs":{"name":"Parciální delece chromozomu 18","synonyms":["Parciální monozomie chromozomu 18"]},"uk":{"name":"Часткова делеція хромосоми 18","synonyms":["Часткова моносомія хромосоми 18"]},"zh":{"name":"18号染色体部分缺失","synonyms":["18号染色体部分单体"]},"tr":{"name":"18. kromozomun kısmi delesyonu","synonyms":["18. kromozomun kısmi monozomisi"]}},"xrefs":[{"source":"MONDO","code":"0016880","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16880","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679660","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98142,"name":"Partial autosomal deletion syndrome","classifications":[147,156]}],"children":[{"orpha":262146,"name":"Partial deletion of the long arm of chromosome 18 syndrome","type":"Category"},{"orpha":261974,"name":"Partial deletion of the short arm of chromosome 18 syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}