{"orpha":262101,"name":"Partial deletion of the long arm of chromosome 13 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 13q","Partial monosomy of chromosome 13q","Partial monosomy of the long arm of chromosome 13"],"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-262101/","orphanet_url":"https://www.orpha.net/en/disease/detail/262101","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 13","synonyms":["Délétion partielle du chromosome 13q","Monosomie partielle du chromosome 13q","Monosomie partielle du long court du chromosome 13"]},"de":{"name":"Chromosom 13q-Deletion, partielle","synonyms":["Chromosom 1,3 partielle Deletion des langen Arms","Partielle Monosomie 13q","Partielle Monosomie des langen Arms von Chromosom 13"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 13","synonyms":["Deleción parcial del cromosoma 13q","Monosomía parcial del brazo largo del cromosoma 13","Monosomía parcial del cromosoma 13q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 13","synonyms":["Delezione parziale del cromosoma 13q","Monosomia parziale del braccio lungo del cromosoma 13","Monosomia parziale del cromosoma 13q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 13-syndroom","synonyms":["Partiële deletie van chromosoom 13q","Partiële monosomie van chromosoom 13q","Partiële monosomie van de lange arm van chromosoom 13"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 13"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 13","synonyms":["Częściowa delecja chromosomu 13q","Cześciowa monosomia chromosomu 13q","Częściowa monosomia długiego ramienia chromosomu 13"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 13","synonyms":["Parciální delece chromozomu 13q","Parciální monozomie chromozomu 13q","Parciální monozomie dlouhého raménka chromozomu 13"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 13","synonyms":["Часткова делеція хромосоми 13q","Часткова моносомія хромосоми 13q","Часткова моносомія довгого плеча хромосоми 13"]},"zh":{"name":"13号染色体长臂部分缺失","synonyms":["13号染色体长臂部分单体"]},"tr":{"name":"13. kromozomun uzun kolunun kısmi delesyonu","synonyms":["13q kromozomunun kısmi delesyonu","13q kromozomunun kısmi monozomisi","13. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"MONDO","code":"0016911","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16911","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535484","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265451","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98142,"name":"Partial autosomal deletion syndrome","classifications":[147,156]}],"children":[{"orpha":412035,"name":"13q12.3 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":1590,"name":"Distal deletion 13q syndrome","type":"Malformation syndrome"},{"orpha":1587,"name":"Monosomy 13q14 syndrome","type":"Malformation syndrome"},{"orpha":96168,"name":"Monosomy 13q34 syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}