{"orpha":262074,"name":"Partial deletion of the long arm of chromosome 9 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 9q","Partial monosomy of chromosome 9q","Partial monosomy of the long 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-262074/","orphanet_url":"https://www.orpha.net/en/disease/detail/262074","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 9","synonyms":["Délétion partielle du chromosome 9q","Monosomie partielle du chromosome 9q","Monosomie partielle du long court du chromosome 9"]},"de":{"name":"Partielle Deletion des langen Arms von Chromosom 9","synonyms":["Chromosom 9, partielle Deletion des langen Arms","Chromosom 9q-Deletion, partielle","Partielle Monosomie 9q","Partielle Monosomie des langen Arms von Chromosom 9"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 9","synonyms":["Deleción parcial del cromosoma 9q","Monosomía parcial del brazo largo del cromosoma 9","Monosomía parcial del cromosoma 9q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 9","synonyms":["Monosomia parziale del braccio lungo del cromosoma 9","Delezione parziale del cromosoma 9q","Monosomia parziale del cromosoma 9q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 9-syndroom","synonyms":["Partiële monosomie van chromosoom 9q","Partiële monosomie van de lange arm van chromosoom 9","Partiële deletie van chromosoom 9q"]},"pt":{"name":"Deleção parcial do braço longo do cromossoma 9","synonyms":["Deleção parcial do cromossoma 9","Monossomia parcial do braço longo do cromossoma 9","Monossomia parcial do cromossoma 9"]},"pl":{"name":"Częściowa monosomia długiego ramienia chromosomu 9","synonyms":["Częściowa delecja chromosomu 9q","Częściowa delecja długiego ramienia chromosomu 9","Cześciowa monosomia chromosomu 9q"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 9","synonyms":["Parciální delece chromozomu 9q","Parciální monozomie chromozomu 9q"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 9","synonyms":["Часткова делеція хромосоми 9q","Часткова моносомія хромосоми 9q","Часткова моносомія довгого плеча хромосоми 9"]},"zh":{"name":"9号染色体长臂部分单体","synonyms":["9号染色体长臂部分单体"]},"tr":{"name":"9. kromozomun uzun kolunun kısmi monozomisi","synonyms":["9q kromozomunun kısmi delesyonu","9q kromozomunun kısmi monozomisi","9. kromozomun uzun kolunun kısmi delesyonu"]}},"xrefs":[{"source":"ICD-11","code":"LD44.90","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1051626600"},{"source":"MONDO","code":"0016908","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16908","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679677","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":531151,"name":"9q21.13 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":401923,"name":"9q31.1q31.3 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":495818,"name":"9q33.3q34.11 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":96147,"name":"Kleefstra syndrome due to 9q34 microdeletion","type":"Etiological subtype"},{"orpha":77301,"name":"Monosomy 9q22.3 syndrome","type":"Malformation syndrome"},{"orpha":352665,"name":"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}