{"orpha":261866,"name":"Partial deletion of the short arm of chromosome 2 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 2p","Partial monosomy of chromosome 2p","Partial monosomy of the short arm of chromosome 2"],"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-261866/","orphanet_url":"https://www.orpha.net/en/disease/detail/261866","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome 2","synonyms":["Délétion partielle du chromosome 2p","Monosomie partielle du bras court du chromosome 2","Monosomie partielle du chromosome 2p"]},"de":{"name":"Chromosom 2p-Deletion, partielle","synonyms":["Chromosom 2, partielle Deletion des kurzen Arms","Partielle Monosomie 2p","Partielle Monosomie des kurzen Arms von Chromosom 2"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma 2","synonyms":["Deleción parcial del cromosoma 2p","Monosomía parcial del brazo corto del cromosoma 2","Monosomía parcial del cromosoma 2p"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma 2","synonyms":["Delezione parziale del cromosoma 2p","Monosomia parziale del braccio corto del cromosoma 2","Monosomia parziale del cromosoma 2p"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom 2-syndroom","synonyms":["Partiële deletie van chromosoom 2p","Partiële monosomie van chromosoom 2p","Partiële monosomie van de korte arm van chromosoom 2"]},"pt":{"name":"Monossomia parcial do braço curto do cromossoma 2"},"pl":{"name":"Zespół częściowej delecji krótkiego ramienia chromosomu 2","synonyms":["Częściowa delecja chromosomu 2p","Cześciowa monosomia chromosomu 2p","Częściowa monosomia krótkiego ramienia chromosomu 2"]},"cs":{"name":"Parciální delece krátkého raménka chromozomu 2","synonyms":["Parciální delece chromozomu 2P","Parciální monozomie chromozomu 2p","Parciální monozomie krátkého raménka chromozomu 2"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми 2","synonyms":["Часткова делеція хромосоми 2p","Часткова моносомія хромосоми 2p","Часткова моносомія короткого плеча хромосоми 2"]},"zh":{"name":"2号染色体短臂部分缺失","synonyms":["2号染色体短臂部分单体"]},"tr":{"name":"2. kromozomun kısa kolunun kısmi delesyonu","synonyms":["2p kromozomunun kısmi delesyonu","2p kromozomunun kısmi monozomisi","2. kromozomun kısa kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1610083208"},{"source":"MONDO","code":"0016884","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16884","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679664","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261771,"name":"Partial deletion of chromosome 2 syndrome","classifications":[147,156]}],"children":[{"orpha":363680,"name":"2p13.2 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":717830,"name":"2p14p15 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":261349,"name":"2p15p16.1 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":369886,"name":"Homozygous 2p21 microdeletion syndrome","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}