{"orpha":263726,"name":"Partial deletion of chromosome X syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial monosomy of chromosome X"],"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-263726/","orphanet_url":"https://www.orpha.net/en/disease/detail/263726","names":{"fr":{"name":"Syndrome de délétion partielle du chromosome x","synonyms":["Monosomie partielle du chromosome X"]},"de":{"name":"Chromosom X-Deletion, partielle","synonyms":["Partielle Monosomie des Chromosom X"]},"es":{"name":"Síndrome de deleción parcial del cromosoma X","synonyms":["Monosomía parcial del cromosoma X"]},"it":{"name":"Sindrome delezione parziale del cromosoma X","synonyms":["Monosomia parziale del cromosoma X"]},"nl":{"name":"Partiële deletie van chromosoom X-syndroom","synonyms":["Partiële monosomie van chromosoom X"]},"pt":{"name":"Deleção parcial do cromossoma X"},"pl":{"name":"Zespół częściowej delecji chromosomu X","synonyms":["Częściowa monosomia chromosomu X"]},"cs":{"name":"Parciální delece chromozomu X","synonyms":["Parciální monozomie chromozomu X"]},"uk":{"name":"Часткова делеція хромосоми Х","synonyms":["Часткова моносомія хромосоми Х"]},"zh":{"name":"X染色体部分缺失","synonyms":["X染色体部分单体"]},"tr":{"name":"X kromozomunun kısmi delesyonu","synonyms":["Kromozom X in kısmi monozomisi"]}},"xrefs":[{"source":"MONDO","code":"0017003","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17003","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679690","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98159,"name":"Chromosome X structural anomaly syndrome","classifications":[147,156]}],"children":[{"orpha":263756,"name":"Partial deletion of the long arm of chromosome X syndrome","type":"Category"},{"orpha":263731,"name":"Partial deletion of the short arm of the chromosome X syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}