{"orpha":263731,"name":"Partial deletion of the short arm of the chromosome X syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome Xp","Partial deletion of the short arm of chromosome X","Partial monosomy of chromosome Xp","Partial monosomy of the short 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-263731/","orphanet_url":"https://www.orpha.net/en/disease/detail/263731","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome x","synonyms":["Délétion partielle du chromosome Xp","Monosomie partielle du bras court du chromosome X","Monosomie partielle du chromosome Xp"]},"de":{"name":"Partielle Deletion des kurzen Arms von Chromosom X","synonyms":["Chromosom X, partielle Deletion des kurzen Arms","Chromosom Xp-Deletion, partielle","Partielle Deletion des Chromosoms Xp","Partielle Monosomie Xp","Partielle Monosomie des kurzen Arms von Chromosom X"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma X","synonyms":["Deleción parcial del cromosa Xp","Monosomía parcial del brazo corto del cromosoma X","Monosomía parcial del cromosoma Xp"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma X","synonyms":["Monosomia parziale del braccio corto del cromosoma X","Delezione parziale del braccio corto del cromosoma X","Delezione parziale del cromosoma Xp","Monosomia parziale del cromosoma Xp"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom X-syndroom","synonyms":["Partiële deletie van chromosoom Xp","Partiële deletie van de korte arm van X-chromosoom","Partiële monosomie van chromosoom Xp","Partiële monosomie van de korte arm van X-chromosoom"]},"pt":{"name":"Deleção parcial do braço curto do cromossoma X","synonyms":["Deleção parcial do cromossoma Xp","Monossomia parcial do braço curto do cromossoma X","Monossomia parcial do cromossoma Xp"]},"pl":{"name":"Zespół częściowej delecji krókiego ramienia chromosomu X","synonyms":["Częściowa delecja chromosomu Xp","Częściowa delecja krótkiego ramienia chromosomu X","Częściowa monosomia chromosomu Xp"]},"cs":{"name":"Parciální monozomie krátkého raménka chromozomu X","synonyms":["Parciální delece Xp","Parciální delece krátkého raménka X chromozomu","Parciální monozomie Xp"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми Х","synonyms":["Часткова делеція хромосоми Xp","Часткова делеція короткого плеча хромосоми Х","Часткова моносомія хромосоми Xp","Часткова моносомія короткого плеча хромосоми Х"]},"zh":{"name":"X染色体短臂部分单体","synonyms":["X染色体短臂部分缺失"]},"tr":{"name":"X kromozomunun kısa kolunun kısmi monozomisi","synonyms":["Kromozom Xp nin kısmi delesyonu","Kromozom Xp nin kısmi monozomisi","Kromozom X in kısa kolunun kısmi delesyonu"]}},"xrefs":[{"source":"MONDO","code":"0017004","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17004","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679689","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":261501,"name":"Atypical Norrie disease due to Xp11.3 microdeletion","type":"Malformation syndrome"},{"orpha":85332,"name":"X-linked intellectual disability-retinitis pigmentosa syndrome","type":"Disease"},{"orpha":261476,"name":"Xp21 deletion syndrome","type":"Disease"},{"orpha":1643,"name":"Xp22.3 microdeletion syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}