{"orpha":262155,"name":"Partial deletion of the long arm of chromosome 19 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 19q","Partial monosomy of chromosome 19q","Partial monosomy of the long 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-262155/","orphanet_url":"https://www.orpha.net/en/disease/detail/262155","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 19","synonyms":["Délétion partielle du chromosome 19q","Monosomie partielle du chromosome 19q","Monosomie partielle du long court du chromosome 19"]},"de":{"name":"Chromosom 19q-Deletion, partielle","synonyms":["Chromosom 19, partielle Deletion des langen Arms","Partielle Monosomie 19q","Partielle Monosomie des langen Arms von Chromosom 19"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 19","synonyms":["Deleción parcial del cromosoma 19q","Monosomía parcial del brazo largo del cromosoma 19","Monosomía parcial del cromosoma 19q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 19","synonyms":["Delezione parziale del cromosoma 19q","Monosomia parziale del braccio lungo del cromosoma 19","Monosomia parziale del cromosoma 19q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 19-syndroom","synonyms":["Partiële deletie van chromosoom 19q","Partiële monosomie van chromosoom 19q","Partiële monosomie van de lange arm van chromosoom 19"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 19"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 19","synonyms":["Częściowa delecja chromosomu 19q","Cześciowa monosomia chromosomu19q","Częściowa monosomia długiego ramienia chromosomu 19"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 19","synonyms":["Parciální delece 19q","Parciální monozomie 19q","Parciální monozomie dlouhého raménka chromozomu 19"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 19","synonyms":["Часткова делеція хромосоми 19q","Часткова моносомія хромосоми 19q","Часткова моносомія довгого плеча хромосоми 19"]},"zh":{"name":"19号染色体长臂部分缺失","synonyms":["19号染色体长臂部分单体"]},"tr":{"name":"19. kromozomun uzun kolunun kısmi delesyonu","synonyms":["19q kromozomunun kısmi delesyonu","19q kromozomunun kısmi monozomisi","19. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.K0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"434506582"},{"source":"MONDO","code":"0016917","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16917","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679729","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":217346,"name":"19q13.11 microdeletion syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}