{"orpha":261983,"name":"Partial deletion of the short arm of chromosome 19 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 19p","Partial monosomy of chromosome 19p","Partial monosomy of the short arm of chromosome 19"],"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-261983/","orphanet_url":"https://www.orpha.net/en/disease/detail/261983","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome 19","synonyms":["Délétion partielle du chromosome 19p","Monosomie partielle du bras court du chromosome 19","Monosomie partielle du chromosome 19p"]},"de":{"name":"Chromosom 19p-Deletion, partielle","synonyms":["Chromosom 19, partielle Deletion des kurzen Arms","Partielle Monosomie 19p","Partielle Monosomie des kurzen Arms von Chromosom 19"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma 19","synonyms":["Deleción parcial del cromosoma 19p","Monosomía parcial del brazo corto del cromosoma 19","Monosomía parcial del cromosoma 19p"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma 19","synonyms":["Delezione parziale del cromosoma 19p","Monosomia parziale del braccio corto del cromosoma 19","Monosomia parziale del cromosoma 19p"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom 19-syndroom","synonyms":["Partiële deletie van chromosoom 19p","Partiële monosomie van chromosoom 19p","Partiële monosomie van de korte arm van chromosoom 19"]},"pt":{"name":"Monossomia parcial do braço curto do cromossoma 19"},"pl":{"name":"Zespół częściowej delecji krótkiego ramienia chromosomu 19","synonyms":["Częściowa delecja chromosomu 19p","Cześciowa monosomia chromosomu 19p","Częściowa monosomia krótkiego ramienia chromosomu 19"]},"cs":{"name":"Parciální delece krátkého raménka chromozomu 19","synonyms":["Parciální delece chromozomu 19p","Parciální monozomie chromozomu 19p","Parciální monozomie krátkého raménka chromozomu 19"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми 19","synonyms":["Часткова делеція хромосоми 19p","Часткова моносомія хромосоми 19p","Часткова моносомія короткого плеча хромосоми 19"]},"zh":{"name":"19号染色体短臂部分缺失","synonyms":["19号染色体短臂部分单体"]},"tr":{"name":"19. kromozom kısa kolunun kısmi delesyonu","synonyms":["19p kromozomunun kısmi delesyonu","19p kromozomunun kısmi monozomisi","19. kromozomun kısa kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.K1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1325170119"},{"source":"MONDO","code":"0016897","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16897","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679672","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261841,"name":"Partial deletion of chromosome 19 syndrome","classifications":[147,156]}],"children":[{"orpha":254346,"name":"19p13.12 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":357001,"name":"19p13.13 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":96129,"name":"Distal deletion 19p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}