{"orpha":261821,"name":"Partial deletion of the long arm of chromosome 12 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 12q","Partial monosomy of chromosome 12q","Partial monosomy of the long arm 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-261821/","orphanet_url":"https://www.orpha.net/en/disease/detail/261821","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 12","synonyms":["Délétion partielle du chromosome 12q","Monosomie partielle du bras long du chromosome 12","Monosomie partielle du chromosome 12q"]},"de":{"name":"Chromosom 12q-Deletion, partielle","synonyms":["Chromosom 12, partielle Deletion des langen Arms","Partielle Monosomie 12q","Partielle Monosomie des langen Arms von Chromosom 12"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 12","synonyms":["Deleción parcial del cromosoma 12q","Monosomía parcial del brazo largo del cromosoma 12","Monosomía parcial del cromosoma 12q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 12","synonyms":["Delezione parziale del cromosoma 12q","Monosomia parziale del braccio lungo del cromosoma 12","Monosomia parziale del cromosoma 12q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 12-syndroom","synonyms":["Partiële deletie van chromosoom 12q","Partiële monosomie van chromosoom 12q","Partiële monosomie van de lange arm van chromosoom 12"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 12"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 12","synonyms":["Częściowa delecja chromosomu 12q","Cześciowa monosomia chromosomu 12q","Częściowa monosomia długiego ramienia chromosomu 12"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 12","synonyms":["Parciální delece chromozomu 12q","Parciální monozomie chromozomu 12q","Parciální monozomie dlouhého raménka chromozomu 12"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 12","synonyms":["Часткова делеція хромосоми 12q","Часткова моносомія хромосоми 12q","Часткова моносомія довгого плеча хромосоми 12"]},"zh":{"name":"12号染色体长臂部分缺失","synonyms":["12号染色体长臂部分单体"]},"tr":{"name":"12. kromozomun uzun kolunun kısmi delesyonu","synonyms":["12q kromozomunun kısmi delesyonu","12q kromozomunun kısmi monozomisi","12. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.C0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1206066048"},{"source":"MONDO","code":"0016877","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16877","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679656","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":282124,"name":"Partial deletion of chromosome 12 syndrome","classifications":[147,156]}],"children":[{"orpha":94063,"name":"12q14 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":289513,"name":"12q15q21 microdeletion syndrome","type":"Etiological subtype"},{"orpha":717812,"name":"12q24.31 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":96149,"name":"Distal deletion 12q syndrome","type":"Malformation syndrome"},{"orpha":96160,"name":"Non-distal deletion 12q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}