{"orpha":261920,"name":"Partial deletion of the short arm of chromosome 8 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 8p","Partial monosomy of chromosome 8p","Partial monosomy of the short arm of chromosome 8"],"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-261920/","orphanet_url":"https://www.orpha.net/en/disease/detail/261920","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome 8","synonyms":["Délétion partielle du chromosome 8p","Monosomie partielle du bras court du chromosome 8","Monosomie partielle du chromosome 8p"]},"de":{"name":"Chromosom 8p-Deletion, partielle","synonyms":["Chromosom 8, partielle Deletion des kurzen Arms","Partielle Monosomie 8p","Partielle Monosomie des kurzen Arms von Chromosom 8"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma 8","synonyms":["Deleción parcial del cromosoma 8p","Monosomía parcial del brazo corto del cromosoma 8","Monosomía parcial del cromosoma 8p"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma 8","synonyms":["Delezione parziale del cromosoma 8p","Monosomia parziale del braccio corto del cromosoma 8","Monosomia parziale del cromosoma 8p"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom 8-syndroom","synonyms":["Partiële deletie van chromosoom 8p","Partiële monosomie van chromosoom 8p","Partiële monosomie van de korte arm van chromosoom 8"]},"pt":{"name":"Monossomia parcial do braço curto do cromossoma 8"},"pl":{"name":"Zespół częściowej delecji krótkiego ramienia chromosomu 8","synonyms":["Częściowa delecja chromosomu 8p","Cześciowa monosomia chromosomu 8p","Częściowa monosomia krótkiego ramienia chromosomu 8"]},"cs":{"name":"Parciální delece krátkého raménka chromozomu 8","synonyms":["Parciální delece chromozomu 8p","Parciální monozomie chromozomu 8p","Parciální monozomie krátkého raménka chromozomu 8"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми 8","synonyms":["Часткова делеція хромосоми 8p","Часткова моносомія хромосоми 8p","Часткова моносомія короткого плеча хромосоми 8"]},"zh":{"name":"8号染色体短臂部分缺失","synonyms":["8号染色体短臂部分单体"]},"tr":{"name":"8. kromozomun kısa kolunun kısmi delesyonu","synonyms":["8p kromozomunun kısmi delesyonu","8p kromozomunun kısmi monozomisi","8. kromozomun kısa kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.81","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"635585868"},{"source":"MONDO","code":"0016890","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16890","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537826","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931635","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261801,"name":"Partial deletion of chromosome 8 syndrome","classifications":[147,156]}],"children":[{"orpha":251066,"name":"8p11.2 deletion syndrome","type":"Malformation syndrome"},{"orpha":251071,"name":"8p23.1 microdeletion syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-09","source":"527246[PMID]_7211950[PMID]_19041960[PMID]_2267231[PMID]_6982667[PMID]_1126055[PMID]","terms":[]}}