{"orpha":261831,"name":"Partial deletion of chromosome 17 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial monosomy 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-261831/","orphanet_url":"https://www.orpha.net/en/disease/detail/261831","names":{"fr":{"name":"Syndrome de délétion partielle du chromosome 17","synonyms":["Monosomie partielle du chromosome 17"]},"de":{"name":"Chromosom 17-Deletion, partielle","synonyms":["Partielle Monosomie des Chromosoms 17"]},"es":{"name":"Síndrome de deleción parcial del cromosoma 17","synonyms":["Monosomía parcial del cromosoma 17"]},"it":{"name":"Sindrome delezione parziale del cromosoma 17","synonyms":["Monosomia parziale del cromosoma 17"]},"nl":{"name":"Partiële deletie van chromosoom 17-syndroom","synonyms":["Partiële monosomie van chromosoom 17"]},"pt":{"name":"Monossomia parcial do cromossoma 17"},"pl":{"name":"Zespół częściowej delecji chromosomu 17","synonyms":["Cześciowa monosomia chromosomu 17"]},"cs":{"name":"Parciální delece chromozomu 17","synonyms":["Parciální monozomie chromozomu 17"]},"uk":{"name":"Часткова делеція хромосоми 17","synonyms":["Часткова моносомія хромосоми 17"]},"zh":{"name":"17号染色体部分缺失","synonyms":["17号染色体部分单体"]},"tr":{"name":"17. kromozomun kısmi delesyonu","synonyms":["17. kromozomun kısmi monozomisi"]}},"xrefs":[{"source":"MONDO","code":"0016879","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16879","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679661","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98142,"name":"Partial autosomal deletion syndrome","classifications":[147,156]}],"children":[{"orpha":262137,"name":"Partial deletion of the long arm of chromosome 17 syndrome","type":"Category"},{"orpha":261965,"name":"Partial deletion of the short arm of chromosome 17 syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}