{"orpha":262137,"name":"Partial deletion of the long arm of chromosome 17 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 17q","Partial monosomy of chromosome 17q","Partial monosomy of the long arm of chromosome 17"],"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-262137/","orphanet_url":"https://www.orpha.net/en/disease/detail/262137","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 17","synonyms":["Délétion partielle du chromosome 17q","Monosomie partielle du chromosome 17q","Monosomie partielle du long court du chromosome 17"]},"de":{"name":"Chromosom 17q-Deletion, partielle","synonyms":["Chromosom 17, partielle Deletion des langen Arms","Partielle Monosomie 17q","Partielle Monosomie des langen Arms von Chromosom 17"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 17","synonyms":["Deleción parcial del cromosoma 17q","Monosomía parcial del brazo largo del cromosoma 17","Monosomía parcial del cromosoma 17q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 17","synonyms":["Delezione parziale del cromosoma 17q","Monosomia parziale del braccio lungo del cromosoma 17","Monosomia parziale del cromosoma 17q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 17-syndroom","synonyms":["Partiële deletie van chromosoom 17q","Partiële monosomie van chromosoom 17q","Partiële monosomie van de lange arm van chromosoom 17"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 17"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 17","synonyms":["Częściowa delecja chromosomu 17q","Cześciowa monosomia chromosomu 17q","Częściowa monosomia długiego ramienia chromosomu 17"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 17","synonyms":["Parciální delece 17q","Parciální monozomie 17q","Parciální monozomie dlouhého raménka chromozomu 17"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 17","synonyms":["Часткова делеція хромосоми 17q","Часткова моносомія хромосоми 17q","Часткова моносомія довгого плеча хромосоми 17"]},"zh":{"name":"17号染色体长臂部分缺失","synonyms":["17号染色体长臂部分单体"]},"tr":{"name":"17. kromozomun uzun kolunun kısmi delesyonu","synonyms":["17q kromozomunun kısmi delesyonu","17q kromozomunun kısmi monozomisi","17. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.H0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"186065235"},{"source":"MONDO","code":"0016915","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16915","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679727","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261831,"name":"Partial deletion of chromosome 17 syndrome","classifications":[147,156]}],"children":[{"orpha":97685,"name":"17q11 microdeletion syndrome","type":"Clinical subtype"},{"orpha":261265,"name":"17q12 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":363958,"name":"17q21.31 microdeletion syndrome","type":"Etiological subtype"},{"orpha":261279,"name":"17q23.1q23.2 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":529962,"name":"17q24.2 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":1597,"name":"Distal deletion 17q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}