{"orpha":262001,"name":"Partial deletion of the long arm of chromosome 1 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial monosomy of chromosome 1q","Partial monosomy of the long arm of chromosome 1","Partial deletion of chromosome 1q"],"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-262001/","orphanet_url":"https://www.orpha.net/en/disease/detail/262001","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 1","synonyms":["Délétion partielle du chromosome 1q","Monosomie partielle du chromosome 1q","Monosomie partielle du long court du chromosome 1"]},"de":{"name":"Chromosom 1q-Deletion, partielle","synonyms":["Chromosom 1, partielle Deletion des langen Arms","Partielle Monosomie 1q","Partielle Monosomie des langen Arms von Chromosom 1"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 1","synonyms":["Deleción parcial del cromosoma 1q","Monosomía parcial del brazo largo del cromosoma 1","Monosomía parcial del cromosoma 1q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 1","synonyms":["Delezione parziale del cromosoma 1q","Monosomia parziale del braccio lungo del cromosoma 1","Monosomia parziale del cromosoma 1q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 1-syndroom","synonyms":["Partiële deletie van chromosoom 1q","Partiële monosomie van chromosoom 1q","Partiële monosomie van de lange arm van chromosoom 1"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 1"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 1","synonyms":["Częściowa delecja chromosomu 1q","Cześciowa monosomia chromosomu 1q","Częściowa monosomia długiego ramienia chromosomu 1"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 1","synonyms":["Parciální delece chromozomu 1q","Parciální monozomie chromozomu 1q","Parciální monozomie dlouhého raménka chromozomu 1"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 1","synonyms":["Часткова делеція хромосоми 1q","Часткова моносомія хромосоми 1q","Часткова моносомія довгого плеча хромосоми 1"]},"zh":{"name":"1号染色体长臂部分缺失","synonyms":["1号染色体长臂部分单体"]},"tr":{"name":"1. kromozomun uzun kolunun kısmi delesyonu","synonyms":["1q kromozomunun kısmi delesyonu","1q kromozomunun kısmi monozomisi","1. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"296620919"},{"source":"MONDO","code":"0022756","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679674","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261766,"name":"Partial deletion of chromosome 1 syndrome","classifications":[147,156]}],"children":[{"orpha":250989,"name":"1q21.1 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":250999,"name":"1q41q42 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":238769,"name":"1q44 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":36367,"name":"Distal deletion 1q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}