{"orpha":262110,"name":"Partial deletion of the long arm of chromosome 14 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 14q","Partial monosomy of chromosome 14q","Partial monosomy of the long arm of chromosome 14"],"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-262110/","orphanet_url":"https://www.orpha.net/en/disease/detail/262110","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 14","synonyms":["Délétion partielle du chromosome 14q","Monosomie partielle du chromosome 14q","Monosomie partielle du long court du chromosome 14"]},"de":{"name":"Chromosom 14q-Deletion, partielle","synonyms":["Partielle Monosomie des langen Arms von Chromosom 14","Chromosom 14, partielle Deletion des langen Arms","Partielle Monosomie 14q"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 14","synonyms":["Deleción parcial del cromosoma 14q","Monosomía parcial del brazo largo del cromosoma 14","Monosomía parcial del cromosoma 14q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 14","synonyms":["Delezione parziale del cromosoma 14q","Monosomia parziale del braccio lungo del cromosoma 14","Monosomia parziale del cromosoma 14q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 14-syndroom","synonyms":["Partiële deletie van chromosoom 14q","Partiële monosomie van chromosoom 14q","Partiële monosomie van de lange arm van chromosoom 14"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 14"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 14","synonyms":["Częściowa delecja chromosomu 14q","Cześciowa monosomia chromosomu 14q","Częściowa monosomia długiego ramienia chromosomu 14"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 14","synonyms":["Parciální delece 14q","Parciální monozomie 14q","Parciální monozomie dlouhého raménka chromozomu 14"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 14","synonyms":["Часткова делеція хромосоми 14q","Часткова моносомія хромосоми 14q","Часткова моносомія довгого плеча хромосоми 14"]},"zh":{"name":"14号染色体长臂部分缺失","synonyms":["14号染色体长臂部分单体"]},"tr":{"name":"14. kromozomun uzun kolunun kısmi delesyonu","synonyms":["14q kromozomunun kısmi delesyonu","14q kromozomunun kısmi monozomisi","14. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"MONDO","code":"0016912","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16912","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538031","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931697","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":261120,"name":"14q11.2 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":264200,"name":"14q22q23 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":401935,"name":"14q24.1q24.3 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":96150,"name":"Distal deletion 14q syndrome","type":"Malformation syndrome"},{"orpha":261144,"name":"FOXG1 syndrome due to 14q12 microdeletion","type":"Clinical subtype"},{"orpha":254528,"name":"Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion","type":"Etiological subtype"},{"orpha":254525,"name":"Temple syndrome due to paternal 14q32.2 microdeletion","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}