{"orpha":261992,"name":"Partial deletion of the short arm of chromosome 20 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 20p","Partial monosomy of chromosome 20p","Partial monosomy of the short arm of chromosome 20","Pure partial 20p deletion"],"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-261992/","orphanet_url":"https://www.orpha.net/en/disease/detail/261992","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome 20","synonyms":["Délétion partielle du chromosome 20p","Monosomie partielle du bras court du chromosome 20","Monosomie partielle du chromosome 20p"]},"de":{"name":"Partielle Deletion des kurzen Arms von Chromosom 20","synonyms":["Chromosom 20, partielle Deletion des kurzen Arms","Chromosom 20p-Deletion, partielle","Partielle Monosomie 20p","Partielle Monosomie des kurzen Arms von Chromosom 20"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma 20","synonyms":["Deleción parcial del cromosoma 20p","Deleción parcial pura del 20p","Monosomía parcial del brazo corto del cromosoma 20","Monosomía parcial del cromosoma 20p"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma 20","synonyms":["Monosomia parziale del braccio corto del cromosoma 20","Delezione 20p parziale pura","Delezione parziale del cromosoma 20p","Monosomia parziale del cromosoma 20p"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom 20-syndroom","synonyms":["Partiële deletie van chromosoom 20p","Partiële monosomie van chromosoom 20p","Partiële monosomie van de korte arm van chromosoom 20","Zuivere partiële 20p-deletie"]},"pt":{"name":"Deleção parcial do braço curto do cromossoma 20","synonyms":["Delecção parcial pura 20p","Deleção parcial do cromossoma 20","Monossomia parcial do braço curto do cromossoma 20","Monossomia parcial do cromossoma 20"]},"pl":{"name":"Zespół częściowej delecji krótkiego ramienia chromosomu 20","synonyms":["Częściowa delecja chromosomu 20p","Częściowa delecja krótkiego ramienia chromosomu 20","Cześciowa monosomia chromosomu20p","Czysta częściowa delecja chromosomu 20p"]},"cs":{"name":"Parciální monozomie krátkého raménka chromozomu 20","synonyms":["Parciální delece chromozomu 20p","Parciální delece krátkého raménka chromozomu 20","Parciální monozomie chromozomu 20p","Čistá parciální 20p delece"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми 20","synonyms":["Часткова делеція хромосоми 20p","Часткова моносомія хромосоми 20p","Часткова моносомія короткого плеча хромосоми 20","Чиста часткова делеція 20p"]},"zh":{"name":"20号染色体短臂部分单体","synonyms":["20号染色体短臂部分单体"]},"tr":{"name":"20. kromozomun kısa kolunun kısmi monozomisi","synonyms":["Tamamen kısmi 20p delesyonu","20p kromozomunun kısmi delesyonu","20p kromozomunun kısmi monozomisi","20. kromozomun kısa kolunun kısmi delesyonu"]}},"xrefs":[{"source":"ICD-11","code":"LD44.L1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"274545745"},{"source":"MONDO","code":"0016898","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16898","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679673","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1611,"name":"OBSOLETE: Deletion 20p","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261846,"name":"Partial deletion of chromosome 20 syndrome","classifications":[147,156]}],"children":[{"orpha":261295,"name":"20p12.3 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":313781,"name":"20p13 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":261600,"name":"Alagille syndrome due to 20p12 microdeletion","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}