{"orpha":261857,"name":"Partial deletion of the short arm of chromosome 1 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 1p","Partial monosomy of chromosome 1p","Partial monosomy of the short arm of chromosome 1"],"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-261857/","orphanet_url":"https://www.orpha.net/en/disease/detail/261857","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome 1","synonyms":["Délétion partielle du chromosome 1p","Monosomie partielle du bras court du chromosome 1","Monosomie partielle du chromosome 1p"]},"de":{"name":"Chromosom 1p-Deletion, partielle","synonyms":["Chromosom 1, partielle Deletion des kurzen Arms","Partielle Monosomie 1p","Partielle Monosomie des kurzen Arms von Chromosom 1"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma 1","synonyms":["Deleción parcial del cromosoma 1p","Monosomía parcial del brazo corto del cromosoma 1","Monosomía parcial del cromosoma 1p"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma 1","synonyms":["Delezione parziale del cromosoma 1p","Monosomia parziale del braccio corto del cromosoma 1","Monosomia parziale del cromosoma 1p"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom 1-syndroom","synonyms":["Partiële deletie van chromosoom 1p","Partiële monosomie van chromosoom 1p","Partiële monosomie van de korte arm van chromosoom 1"]},"pt":{"name":"Monossomia parcial do braço curto do cromossoma 1"},"pl":{"name":"Zespół częściowej delecji krótkiego ramienia chromosomu 1","synonyms":["Częściowa delecja chromosomu 1p","Cześciowa monosomia chromosomu 1p","Częściowa monosomia krótkiego ramienia chromosomu 1"]},"cs":{"name":"Parciální delece krátkého raménka chromozomu 1","synonyms":["Parciální delece chromozomu 1p","Parciální monozomie chromozomu 1p","Parciální monozomie krátkého raménka chromozomu 1"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми 1","synonyms":["Часткова делеція хромосоми 1p","Часткова моносомія хромосоми 1p","Часткова моносомія короткого плеча хромосоми 1"]},"zh":{"name":"1号染色体短臂部分缺失","synonyms":["1号染色体短臂部分单体"]},"tr":{"name":"1. kromozomun kısa kolunun kısmi delesyonu","synonyms":["1p kromozomunun kısmi delesyonu","1p kromozomunun kısmi monozomisi","1. kromozomun kısa kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.11","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1004815242"},{"source":"MONDO","code":"0016883","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16883","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535591","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795796","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261766,"name":"Partial deletion of chromosome 1 syndrome","classifications":[147,156]}],"children":[{"orpha":293948,"name":"1p21.3 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":401986,"name":"1p31p32 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":456298,"name":"1p35.2 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":1606,"name":"1p36 deletion syndrome","type":"Malformation syndrome"},{"orpha":615986,"name":"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}