{"orpha":261902,"name":"Partial deletion of the short arm of chromosome 6 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 6p","Partial monosomy of chromosome 6p","Partial monosomy of the short arm of chromosome 6"],"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-261902/","orphanet_url":"https://www.orpha.net/en/disease/detail/261902","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome 6","synonyms":["Délétion partielle du chromosome 6p","Monosomie partielle du bras court du chromosome 6","Monosomie partielle du chromosome 6p"]},"de":{"name":"Chromosom 6p-Deletion, partielle","synonyms":["Chromosom 6, partielle Deletion des kurzen Arms","Partielle Monosomie 6p","Partielle Monosomie des kurzen Arms von Chromosom 6"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma 6","synonyms":["Deleción parcial del cromosoma 6p","Monosomía parcial del brazo corto del cromosoma 6","Monosomía parcial del cromosoma 6p"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma 6","synonyms":["Delezione parziale del cromosoma 6p","Monosomia parziale del braccio corto del cromosoma 6","Monosomia parziale del cromosoma 6p"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom 6-syndroom","synonyms":["Partiële deletie van chromosoom 6p","Partiële monosomie van chromosoom 6p","Partiële monosomie van de korte arm van chromosoom 6"]},"pt":{"name":"Monossomia parcial do braço curto do cromossoma 6"},"pl":{"name":"Zespół częściowej delecji krótkiego ramienia chromosomu 6","synonyms":["Częściowa delecja chromosomu 6p","Cześciowa monosomia chromosomu 6p","Częściowa monosomia krótkiego ramienia chromosomu 6"]},"cs":{"name":"Parciální delece krátkého raménka chromozomu 6","synonyms":["Parciální delece chromozomu 6p","Parciální monozomie chromozomu 6p","Parciální monozomie krátkého raménka chromozomu 6"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми 6","synonyms":["Часткова делеція хромосоми 6p","Часткова моносомія хромосоми 6p","Часткова моносомія короткого плеча хромосоми 6"]},"zh":{"name":"6号染色体短臂部分缺失","synonyms":["6号染色体短臂部分单体"]},"tr":{"name":"6. kromozomun kısa kolunun kısmi delesyonu","synonyms":["6p kromozomunun kısmi delesyonu","6p kromozomunun kısmi monozomisi","6. kromozomun kısa kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.61","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"241036989"},{"source":"MONDO","code":"0016888","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16888","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679667","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261791,"name":"Partial deletion of chromosome 6 syndrome","classifications":[147,156]}],"children":[{"orpha":251046,"name":"6p22 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":96125,"name":"Distal deletion 6p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}