{"orpha":282124,"name":"Partial deletion of chromosome 12 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial monosomy of chromosome 12"],"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-282124/","orphanet_url":"https://www.orpha.net/en/disease/detail/282124","names":{"fr":{"name":"Syndrome de délétion partielle du chromosome 12","synonyms":["Monosomie partielle du chromosome 12"]},"de":{"name":"Chromosom 12, partielle Deletion","synonyms":["Chromosom 12, partielle Monosomie"]},"es":{"name":"Síndrome de deleción parcial del cromosoma 12","synonyms":["Monosomía parcial del cromosoma 12"]},"it":{"name":"Sindrome delezione parziale del cromosoma 12","synonyms":["Monosomia parziale del cromosoma 12"]},"nl":{"name":"Partiële deletie van chromosoom 12-syndroom","synonyms":["Partiële monosomie van chromosoom 12"]},"pt":{"name":"Deleção parcial do cromossoma 12","synonyms":["Monossomia parcial do cromossoma 12"]},"pl":{"name":"Zespół częściowej delecji chromosomu 12","synonyms":["Częściowa monosomia chromosomu 12"]},"cs":{"name":"Částečná delece chromozomu 12","synonyms":["Částečná monozomie chromozomu 12"]},"uk":{"name":"Часткова делеція хромосоми 12","synonyms":["Часткова моносомія хромосоми 12"]},"zh":{"name":"12号染色体部分缺失","synonyms":["12号染色体部分单体"]},"tr":{"name":"12. kromozomun kısmi delesyonu","synonyms":["12. kromozomun kısmi monozomisi"]}},"xrefs":[{"source":"MONDO","code":"0017277","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17277","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680422","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":261821,"name":"Partial deletion of the long arm of chromosome 12 syndrome","type":"Category"},{"orpha":316244,"name":"Partial deletion of the short arm of chromosome 12 syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}