{"orpha":262010,"name":"Partial deletion of the long arm of chromosome 2 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 2q","Partial monosomy of chromosome 2q","Partial monosomy of the long arm of chromosome 2"],"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-262010/","orphanet_url":"https://www.orpha.net/en/disease/detail/262010","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 2","synonyms":["Délétion partielle du chromosome 2q","Monosomie partielle du bras long du chromosome 2","Monosomie partielle du chromosome 2q"]},"de":{"name":"Chromosom 2q-Deletion, partielle","synonyms":["Chromosom 2, partielle Deletion des langen Arms","Partielle Monosomie 2q","Partielle Monosomie des langen Arms von Chromosom 2"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 2","synonyms":["Deleción parcial del cromosoma 2q","Monosomía parcial del brazo largo del cromosoma 2","Monosomía parcial del cromosoma 2q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 2","synonyms":["Delezione parziale del cromosoma 2q","Monosomia parziale del braccio lungo del cromosoma 2","Monosomia parziale del cromosoma 2q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 2-syndroom","synonyms":["Partiële monosomie van chromosoom 2q","Partiële monosomie van de lange arm van chromosoom 2","Partiële deletie van chromosoom 2q"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 2"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 2","synonyms":["Częściowa delecja chromosomu 2q","Cześciowa monosomia chromosomu 2q","Częściowa monosomia długiego ramienia chromosomu 2"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 2","synonyms":["Parciální delece chromozomu 2q","Parciální monozomie chromozomu 2q","Parciální monozomie dlouhého raménka chromozomu 2"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 2","synonyms":["Часткова делеція хромосоми 2q","Часткова моносомія хромосоми 2q","Часткова моносомія довгого плеча хромосоми 2"]},"zh":{"name":"2号染色体长臂部分缺失","synonyms":["2号染色体长臂部分单体"]},"tr":{"name":"2. kromozomun uzun kolunun kısmen delesyonu","synonyms":["2q kromozomunun kısmi delesyonu","2q kromozomunun kısmi monozomisi","2. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"754787315"},{"source":"MONDO","code":"0016901","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16901","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538315","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795804","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261771,"name":"Partial deletion of chromosome 2 syndrome","classifications":[147,156]}],"children":[{"orpha":684742,"name":"2q13 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":228402,"name":"2q23.1 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":251014,"name":"2q31.1 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":251019,"name":"2q32q33 deletion syndrome","type":"Malformation syndrome"},{"orpha":1001,"name":"2q37 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":261537,"name":"Mowat-Wilson syndrome due to monosomy 2q22","type":"Etiological subtype"},{"orpha":251028,"name":"SATB2-associated syndrome due to a chromosomal rearrangement","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}