{"orpha":263756,"name":"Partial deletion of the long arm of chromosome X syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome Xq","Partial monosomy of chromosome Xq","Partial monosomy of the long arm 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-263756/","orphanet_url":"https://www.orpha.net/en/disease/detail/263756","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome x","synonyms":["Délétion partielle du chromosome Xq","Monosomie partielle du chromosome Xq","Monsomie partielle du bras long du chromosome X"]},"de":{"name":"Chromosom X, partielle Deletion des langen Arms","synonyms":["Chromosom Xq-Deletion, partielle","Partielle Monosomie Xq","Partielle Monosomie des langen Arms von Chromosom X"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma X","synonyms":["Deleción parcial del cromosoma Xq","Monosomía parcial del brazo largo del cromosoma X","Monosomía parcial del cromosoma Xq"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma X","synonyms":["Monosomia parziale del braccio lungo del cromosoma X","Delezione parziale del cromosoma Xp","Monosomia parziale del braccio corto del cromosoma X","Monosomia parziale del cromosoma Xq"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom X-syndroom","synonyms":["Partiële deletie van chromosoom Xq","Partiële monosomie van chromosoom Xq","Partiële monosomie van de lange arm van chromosoom X"]},"pt":{"name":"Deleção parcial do braço longo do cromossoma X"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu X","synonyms":["Częściowa delecja chromosomu Xq","Częściowa monosomia chromosomu Xq","Częściowa monosomia krótkiego ramienia chromosomu X"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu X","synonyms":["Parciální delece Xq","Parciální monozomie Xq","Parciální monozomie dlouhého raménka chromozomu X"]},"uk":{"name":"Часткова днлнція довгого плеча хромосоми Х","synonyms":["Часткова делеція хромосоми Xq","Часткова моносомія хромосоми Xq","Часткова моносомія довгого плеча хромосоми Х"]},"zh":{"name":"X染色体长臂部分缺失","synonyms":["X染色体长臂部分单体"]},"tr":{"name":"X kromozomunun uzun kolunun kısmi delesyonu","synonyms":["Kromozom Xq nun kısmi delesyonu","Kromozom Xq nun kısmi monozomisi","Kromozom X in uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"MONDO","code":"0017007","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17007","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679688","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263726,"name":"Partial deletion of chromosome X syndrome","classifications":[147,156]}],"children":[{"orpha":86818,"name":"Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome","type":"Disease"},{"orpha":1018,"name":"X-linked Alport syndrome-diffuse leiomyomatosis","type":"Clinical subtype"},{"orpha":456328,"name":"X-linked myotubular myopathy-abnormal genitalia syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}