{"orpha":261974,"name":"Partial deletion of the short arm of chromosome 18 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 18p","Partial monosomy of chromosome 18p","Partial monosomy of the short arm of chromosome 18"],"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-261974/","orphanet_url":"https://www.orpha.net/en/disease/detail/261974","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome 18","synonyms":["Délétion partielle du chromosome 18p","Monosomie partielle du bras court du chromosome 18","Monosomie partielle du chromosome 18p"]},"de":{"name":"Chromosom 18p-Deletion, partielle","synonyms":["Chromosom 18, partielle Deletion des kurzen Arms","Partielle Monosomie 18p","Partielle Monosomie des kurzen Arms von Chromosom 18"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma 18","synonyms":["Deleción parcial del cromosoma 18p","Monosomía parcial del brazo corto del cromosoma 18","Monosomía parcial del cromosoma 18p"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma 18","synonyms":["Delezione parziale del cromosoma 18p","Monosomia parziale del braccio corto del cromosoma 18","Monosomia parziale del cromosoma 18p"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom 18-syndroom","synonyms":["Partiële deletie van chromosoom 18p","Partiële monosomie van chromosoom 18p","Partiële monosomie van de korte arm van chromosoom 18"]},"pt":{"name":"Monossomia parcial do braço curto do cromossoma 18"},"pl":{"name":"Zespół częściowej delecji krótkiego ramienia chromosomu 18","synonyms":["Częściowa delecja chromosomu 18p","Cześciowa monosomia chromosomu 18p","Częściowa monosomia krótkiego ramienia chromosomu 18"]},"cs":{"name":"Parciální delece krátkého raménka chromozomu 18","synonyms":["Parciální delece chromozomu 18p","Parciální monozomie chromozomu 18p","Parciální monozomie krátkého raménka chromozomu 18"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми 18","synonyms":["Часткова делеція хромосоми 18p","Часткова моносомія хромосоми 18p","Часткова моносомія короткого плеча хромосоми 18"]},"zh":{"name":"18号染色体短臂部分缺失","synonyms":["18号染色体短臂部分单体"]},"tr":{"name":"18. kromozomun kısa kolunun kısmi delesyonu","synonyms":["18p kromozomunun kısmi delesyonu","18p kromozomunun kısmi monozomisi","18. kromozomun kısa kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.J1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"121037615"},{"source":"MONDO","code":"7800","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848132","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261836,"name":"Partial deletion of chromosome 18 syndrome","classifications":[147,156]}],"children":[{"orpha":1598,"name":"Monosomy 18p syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}