{"orpha":262056,"name":"Partial deletion of the long arm of chromosome 7 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 7q","Partial monosomy of chromosome 7q","Partial monosomy of the long arm of chromosome 7"],"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-262056/","orphanet_url":"https://www.orpha.net/en/disease/detail/262056","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 7","synonyms":["Délétion partielle du chromosome 7q","Monosomie partielle du chromosome 7q","Monosomie partielle du long court du chromosome 7"]},"de":{"name":"Chromosom 7q-Deletion, partielle","synonyms":["Chromosom 7, partielle Deletion des langen Arms","Partielle Monosomie 7q","Partielle Monosomie des langen Arms von Chromosom 7"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 7","synonyms":["Deleción parcial del cromosoma 7q","Monosomía parcial del brazo largo del cromosoma 7","Monosomía parcial del cromosoma 7q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 7","synonyms":["Delezione parziale del cromosoma 7q","Monosomia parziale del braccio lungo del cromosoma 7","Monosomia parziale del cromosoma 7q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 7-syndroom","synonyms":["Partiële deletie van chromosoom 7q","Partiële monosomie van chromosoom 7q","Partiële monosomie van de lange arm van chromosoom 7"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 7"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 7","synonyms":["Częściowa delecja chromosomu 7q","Cześciowa monosomia chromosomu 7q","Częściowa monosomia długiego ramienia chromosomu 7"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 7","synonyms":["Parciální delece chromozomu 7q","Parciální monozomie chromozomu 7q","Parciální monozomie dlouhého raménka chromozomu 7"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 7","synonyms":["Часткова делеція хромосоми 7q","Часткова моносомія хромосоми 7q","Часткова моносомія довгого плеча хромосоми 7"]},"zh":{"name":"7号染色体长臂部分缺失","synonyms":["7号染色体长臂部分单体"]},"tr":{"name":"7. kromozomun uzun kolunun kısmi delesyonu","synonyms":["7q kromozomunun kısmi delesyonu","7q kromozomunun kısmi monozomisi","7. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.70","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1458081087"},{"source":"MONDO","code":"0016906","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16906","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679676","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261796,"name":"Partial deletion of chromosome 7 syndrome","classifications":[147,156]}],"children":[{"orpha":251061,"name":"7q31 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":254351,"name":"Distal 7q11.23 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":1636,"name":"Distal monosomy 7q36 syndrome","type":"Malformation syndrome"},{"orpha":904,"name":"Williams syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}