{"orpha":262038,"name":"Partial deletion of the long arm of chromosome 5 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 5q","Partial monosomy of chromosome 5q","Partial monosomy of the long arm of chromosome 5"],"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-262038/","orphanet_url":"https://www.orpha.net/en/disease/detail/262038","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 5","synonyms":["Délétion partielle du chromosome 5q","Monosomie partielle du chromosome 5q","Monosomie partielle du long court du chromosome 5"]},"de":{"name":"Chromosom 5q-Deletion, partielle","synonyms":["Chromosom 5, partielle Deletion des langen Arms","Partielle Monosomie 5q","Partielle Monosomie des langen Arms von Chromosom 5"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 5","synonyms":["Deleción parcial del cromosoma 5q","Monosomía parcial del brazo largo del cromosoma 5","Monosomía parcial del cromosoma 5q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 5","synonyms":["Delezione parziale del cromosoma 5q","Monosomia parziale del braccio lungo del cromosoma 5","Monosomia parziale del cromosoma 5q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 5-syndroom","synonyms":["Partiële deletie van chromosoom 5q","Partiële monosomie van chromosoom 5q","Partiële monosomie van de lange arm van chromosoom 5"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 5"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 5","synonyms":["Częściowa delecja chromosomu 5q","Cześciowa monosomia chromosomue 5q","Częściowa monosomia długiego ramienia chromosomu 5"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 5","synonyms":["Parciální delece chromozomu 5q","Parciální monozomie chromozomu 5q","Parciální monozomie dlouhého raménka chromozomu 5"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 5","synonyms":["Часткова делеція хромосоми 5q","Часткова моносомія хромосоми 5q","Часткова моносомія довгого плеча хромосоми 5"]},"zh":{"name":"5号染色体长臂部分缺失","synonyms":["5号染色体长臂部分单体"]},"tr":{"name":"5. kromozomun uzun kolunun kısmi delesyonu","synonyms":["5q kromozomunun kısmi delesyonu","5q kromozomunun kısmi monozomisi","5. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.50","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"285885131"},{"source":"MONDO","code":"0016904","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16904","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535323","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0740302","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068532","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261786,"name":"Partial deletion of chromosome 5 syndrome","classifications":[147,156]}],"children":[{"orpha":228384,"name":"5q14.3 microdeletion syndrome","type":"Etiological subtype"},{"orpha":261584,"name":"5q22 microdeletion syndrome","type":"Disease"},{"orpha":436003,"name":"Contractures-developmental delay-Pierre Robin syndrome","type":"Malformation syndrome"},{"orpha":1627,"name":"Deletion 5q35 syndrome","type":"Malformation syndrome"},{"orpha":314655,"name":"Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion","type":"Etiological subtype"},{"orpha":821,"name":"Sotos syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}