{"orpha":262119,"name":"Partial deletion of the long arm of chromosome 15 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 15q","Partial monosomy of chromosome 15q","Partial monosomy of the long arm of chromosome 15"],"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-262119/","orphanet_url":"https://www.orpha.net/en/disease/detail/262119","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 15","synonyms":["Délétion partielle du chromosome 15q","Monosomie partielle du chromosome 15q","Monosomie partielle du long court du chromosome 15"]},"de":{"name":"Chromosom 15q-Deletion, partielle","synonyms":["Chromosom 15, partielle Deletion des langen Arms","Partielle Monosomie 15q","Partielle Monosomie des langen Arms von Chromosom 15"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 15","synonyms":["Deleción parcial del cromosoma 15q","Monosomía parcial del brazo largo del cromosoma 15","Monosomía parcial del cromosoma 15q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 15","synonyms":["Delezione parziale del cromosoma 15q","Monosomia parziale del braccio lungo del cromosoma 15","Monosomia parziale del cromosoma 15q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 15-syndroom","synonyms":["Partiële deletie van chromosoom 15q","Partiële monosomie van chromosoom 15q","Partiële monosomie van de lange arm van chromosoom 15"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 15"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 15","synonyms":["Częściowa delecja chromosomu 15q","Cześciowa monosomia chromosomu 15q","Częściowa monosomia długiego ramienia chromosomu 15"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 15","synonyms":["Parciální delece 15q","Parciální monozomie 15q","Parciální monozomie dlouhého raménka chromozomu 15"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 15","synonyms":["Часткова делеція хромосоми 15q","Часткова моносомія хромосоми 15q","Часткова моносомія довгого плеча хромосоми 15"]},"zh":{"name":"15号染色体长臂部分缺失","synonyms":["15号染色体长臂部分单体"]},"tr":{"name":"15. kromozomun uzun kolunun kısmi delesyonu","synonyms":["15q kromozomunun kısmi delesyonu","15q kromozomunun kısmi monozomisi","15. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"MONDO","code":"0016913","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16913","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538038","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931708","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":261183,"name":"15q11.2 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":199318,"name":"15q13.3 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":94065,"name":"15q24 microdeletion syndrome","type":"Etiological subtype"},{"orpha":98794,"name":"Angelman syndrome due to maternal 15q11q13 deletion","type":"Etiological subtype"},{"orpha":261190,"name":"Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion","type":"Clinical subtype"},{"orpha":94064,"name":"Deafness-infertility syndrome","type":"Malformation syndrome"},{"orpha":1596,"name":"Distal deletion 15q syndrome","type":"Malformation syndrome"},{"orpha":98793,"name":"Prader-Willi syndrome due to paternal 15q11q13 deletion","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}