{"orpha":261929,"name":"Partial deletion of the short arm of chromosome 9 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 9p","Partial monosomy of chromosome 9p","Partial monosomy of the short arm of chromosome 9"],"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-261929/","orphanet_url":"https://www.orpha.net/en/disease/detail/261929","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome 9","synonyms":["Délétion partielle du chromosome 9p","Monosomie partielle du bras court du chromosome 9","Monosomie partielle du chromosome 9p"]},"de":{"name":"Chromosom 9p-Deletion, partielle","synonyms":["Chromosom 9, partielle Deletion des kurzen Arms","Partielle Monosomie 9p","Partielle Monosomie des kurzen Arms von Chromosom 9"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma 9","synonyms":["Deleción parcial del cromosoma 9p","Monosomía parcial del brazo corto del cromosoma 9","Monosomía parcial del cromosoma 9p"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma 9","synonyms":["Delezione parziale del cromosoma 9p","Monosomia parziale del braccio corto del cromosoma 9","Monosomia parziale del cromosoma 9p"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom 9-syndroom","synonyms":["Partiële deletie van chromosoom 9p","Partiële monosomie van chromosoom 9p","Partiële monosomie van de korte arm van chromosoom 9"]},"pt":{"name":"Monossomia parcial do braço curto do cromossoma 9"},"pl":{"name":"Zespół częściowej delecji krótkiego ramienia chromosomu 9","synonyms":["Częściowa delecja chromosomu 9p","Cześciowa monosomia chromosomu 9p","Częściowa monosomia krótkiego ramienia chromosomu 9"]},"cs":{"name":"Parciální delece krátkého raménka chromozomu 9","synonyms":["Parciální delece chromozomu 9p","Parciální monozomie chromozomu 9p","Parciální monozomie krátkého raménka chromozomu 9"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми 9","synonyms":["Часткова делеція хромосоми 9p","Часткова моносомія хромосоми 9p","Часткова моносомія короткого плеча хромосоми 9"]},"zh":{"name":"9号染色体短臂部分缺失","synonyms":["9号染色体短臂部分单体"]},"tr":{"name":"9. kromozomun kısa kolunun kısmi delesyonu","synonyms":["9p kromozomunun kısmi delesyonu","9p kromozomunun kısmi monozomisi","9. kromozomun kısa kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.91","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"924171107"},{"source":"MONDO","code":"16891","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679669","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261806,"name":"Partial deletion of chromosome 9 syndrome","classifications":[147,156]}],"children":[{"orpha":324313,"name":"9p13 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":714413,"name":"9p23p22.2 microdeletion syndrome","type":"Etiological subtype"},{"orpha":1642,"name":"Distal deletion 9p syndrome","type":"Malformation syndrome"},{"orpha":261112,"name":"Monosomy 9p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}