{"orpha":262029,"name":"Partial deletion of the long arm of chromosome 4 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 4q","Partial monosomy of chromosome 4q","Partial monosomy of the long arm of chromosome 4"],"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-262029/","orphanet_url":"https://www.orpha.net/en/disease/detail/262029","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 4","synonyms":["Délétion partielle du chromosome 4q","Monosomie partielle du chromosome 4q","Monosomie partielle du long court du chromosome 4"]},"de":{"name":"Chromosom 4q-Deletion, partielle","synonyms":["Chromosom 4, partielle Deletion des langen Arms","Partielle Monosomie 4q","Partielle Monosomie des langen Arms von Chromosom 4"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 4","synonyms":["Deleción parcial del cromosoma 4q","Monosomía parcial del brazo largo del cromosoma 4","Monosomía parcial del cromosoma 4q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 4","synonyms":["Delezione parziale del cromosoma 4q","Monosomia parziale del braccio lungo del cromosoma 4","Monosomia parziale del cromosoma 4q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 4-syndroom","synonyms":["Partiële deletie van chromosoom 4q","Partiële monosomie van chromosoom 4q","Partiële monosomie van de lange arm van chromosoom 4"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 4"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 4","synonyms":["Częściowa delecja chromosomu 4q","Cześciowa monosomia chromosomu 4q","Częściowa monosomia długiego ramienia chromosomu 4"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 4","synonyms":["Parciální delece chromozomu 4q","Parciální monozomie chromozomu 4q","Parciální monozomie dlouhého raménka chromozomu 4"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 4","synonyms":["Часткова делеція хромосоми 4q","Часткова моносомія хромосоми 4q","Часткова моносомія довгого плеча хромосоми 4"]},"zh":{"name":"4号染色体长臂部分缺失","synonyms":["4号染色体长臂部分单体"]},"tr":{"name":"4. kromozomun uzun kolunun kısmi delesyonu","synonyms":["4q kromozomunun kısmi delesyonu","4q kromozomunun kısmi monozomisi","4. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.40","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"855319857"},{"source":"MONDO","code":"0016903","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16903","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537639","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265404","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1625,"name":"OBSOLETE: Deletion 4q","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261781,"name":"Partial deletion of chromosome 4 syndrome","classifications":[147,156]}],"children":[{"orpha":238750,"name":"4q21 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":502437,"name":"4q25 proximal deletion syndrome","type":"Malformation syndrome"},{"orpha":96145,"name":"Distal deletion 4q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}