{"orpha":262019,"name":"Partial deletion of the long arm of chromosome 3 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 3q","Partial monosomy of chromosome 3q","Partial monosomy of the long arm of chromosome 3"],"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-262019/","orphanet_url":"https://www.orpha.net/en/disease/detail/262019","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 3","synonyms":["Délétion partielle du chromosome 3q","Monosomie partielle du chromosome 3q","Monosomie partielle du long court du chromosome 3"]},"de":{"name":"Chromosom 3q-Deletion, partielle","synonyms":["Chromosom 3, partielle Deletion des langen Arms","Partielle Monosomie 3q","Partielle Monosomie des langen Arms von Chromosom 3"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 3","synonyms":["Deleción parcial del cromosoma 3q","Monosomía parcial del brazo largo del cromosoma 3","Monosomía parcial del cromosoma 3q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 3","synonyms":["Delezione parziale del cromosoma 3q","Monosomia parziale del braccio lungo del cromosoma 3","Monosomia parziale del cromosoma 3q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 3-syndroom","synonyms":["Partiële deletie van chromosoom 3q","Partiële monosomie van chromosoom 3q","Partiële monosomie van de lange arm van chromosoom 3"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 3"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 3","synonyms":["Częściowa delecja chromosomu 3q","Cześciowa monosomia chromosomu 3q","Częściowa monosomia długiego ramienia chromosomu 3"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 3","synonyms":["Parciální delece chromozomu 3q","Parciální monozomie chromozomu 3q","Parciální monozomie dlouhého raménka chromozomu 3"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 3","synonyms":["Часткова делеція хромосоми 3q","Часткова моносомія хромосоми 3q","Часткова моносомія довгого плеча хромосоми 3"]},"zh":{"name":"3号染色体长臂部分缺失","synonyms":["3号染色体长臂部分单体"]},"tr":{"name":"3. kromozomun uzun kolunun kısmi delesyonu","synonyms":["3q kromozomunun kısmi delesyonu","3q kromozomunun kısmi monozomisi","3. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.30","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1054533453"},{"source":"MONDO","code":"0016902","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16902","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679675","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261776,"name":"Partial deletion of chromosome 3 syndrome","classifications":[147,156]}],"children":[{"orpha":1621,"name":"3q13 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":695611,"name":"3q27.1 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":397695,"name":"3q27.3 microdeletion syndrome","type":"Disease"},{"orpha":65286,"name":"3q29 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":572333,"name":"Blepharophimosis-ptosis-epicanthus inversus syndrome plus","type":"Malformation syndrome"},{"orpha":730866,"name":"Wisconsin syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}