{"orpha":261875,"name":"Partial deletion of the short arm of chromosome 3 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 3p","Partial monosomy of chromosome 3p","Partial monosomy of the short arm of chromosome 3"],"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-261875/","orphanet_url":"https://www.orpha.net/en/disease/detail/261875","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome 3","synonyms":["Délétion partielle du chromosome 3p","Monosomie partielle du bras court du chromosome 3","Monosomie partielle du chromosome 3p"]},"de":{"name":"Chromosom 3p-Deletion, partielle","synonyms":["Chromosom 3, partielle Deletion des kurzen Arms","Partielle Monosomie 3p","Partielle Monosomie des kurzen Arms von Chromosom 3"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma 3","synonyms":["Deleción parcial del cromosoma 3p","Monosomía parcial del brazo corto del cromosoma 3","Monosomía parcial del cromosoma 3p"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma 3","synonyms":["Delezione parziale del cromosoma 3p","Monosomia parziale del braccio corto del cromosoma 3","Monosomia parziale del cromosoma 3p"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom 3-syndroom","synonyms":["Partiële deletie van chromosoom 3p","Partiële monosomie van chromosoom 3p","Partiële monosomie van de korte arm van chromosoom 3"]},"pt":{"name":"Monossomia parcial do braço curto do cromossoma 3"},"pl":{"name":"Zespół częściowej delecji krótkiego ramienia chromosomu 3","synonyms":["Częściowa delecja chromosomu 3p","Cześciowa monosomia chromosomu 3p","Częściowa monosomia krótkiego ramienia chromosomu 3"]},"cs":{"name":"Parciální delece krátkého raménka chromozomu 3","synonyms":["Parciální delece chromozomu 3p","Parciální monozomie chromozomu 3p","Parciální monozomie krátkého raménka chromozomu 3"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми 3","synonyms":["Часткова делеція хромосоми 3p","Часткова моносомія хромосоми 3p","Часткова моносомія короткого плеча хромосоми 3"]},"zh":{"name":"3号染色体短臂部分缺失","synonyms":["3号染色体短臂部分单体"]},"tr":{"name":"3. kromozomun kısa kolunun kısmi delesyonu","synonyms":["3p kromozomunun kısmi delesyonu","3p kromozomunun kısmi monozomisi","3. kromozomun kısa kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.31","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"551346575"},{"source":"MONDO","code":"0016885","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16885","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679666","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"37","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261776,"name":"Partial deletion of chromosome 3 syndrome","classifications":[147,156]}],"children":[{"orpha":1620,"name":"Distal deletion 3p syndrome","type":"Malformation syndrome"},{"orpha":435638,"name":"Proximal 3p25.3 microdeletion syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}