{"orpha":261893,"name":"Partial deletion of the short arm of chromosome 5 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 5p","Partial monosomy of chromosome 5p","Partial monosomy of the short 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-261893/","orphanet_url":"https://www.orpha.net/en/disease/detail/261893","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome 5","synonyms":["Monosomie partielle du bras court du chromosome 5","Monosomie partielle du chromosome 5p","Délétion partielle du chromosome 5p"]},"de":{"name":"Chromosom 5p-Deletion, partielle","synonyms":["Chromosom 5, partielle Deletion des kurzen Arms","Partielle Monosomie 5p","Partielle Monosomie des kurzen Arms von Chromosom 5"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma 5","synonyms":["Deleción parcial del cromosoma 5p","Monosomía parcial del brazo corto del cromosoma 5","Monosomía parcial del cromosoma 5p"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma 5","synonyms":["Delezione parziale del cromosoma 5p","Monosomia parziale del braccio corto del cromosoma 5","Monosomia parziale del cromosoma 5p"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom 5-syndroom","synonyms":["Partiële deletie van chromosoom 5p","Partiële monosomie van chromosoom 5p","Partiële monosomie van de korte arm van chromosoom 5"]},"pt":{"name":"Monossomia parcial do braço curto do cromossoma 5"},"pl":{"name":"Zespół częściowej delecji krótkiego ramienia chromosomu 5","synonyms":["Częściowa delecja chromosomu 5p","Cześciowa monosomia chromosomu 5p","Częściowa monosomia krótkiego ramienia chromosomu 5"]},"cs":{"name":"Parciální delece krátkého raménka chromozomu 5","synonyms":["Parciální delece chromozomu 5p","Parciální monozomie chromozomu 5p","Parciální monozomie krátkého raménka chromozomu 5"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми 5","synonyms":["Часткова делеція хромосоми 5p","Часткова моносомія хромосоми 5p","Часткова моносомія короткого плеча хромосоми 5"]},"zh":{"name":"5号染色体短臂部分缺失","synonyms":["5号染色体短臂部分单体"]},"tr":{"name":"5. kromozomun kısa kolunun kısmi delesyonu","synonyms":["5p kromozomunun kısmi delesyonu","5p kromozomunun kısmi monozomisi","5. kromozomun kısa kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.51","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1109271336"},{"source":"MONDO","code":"0016887","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16887","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5547451","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":281,"name":"Monosomy 5p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}