{"orpha":261766,"name":"Partial deletion of chromosome 1 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial monosomy 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-261766/","orphanet_url":"https://www.orpha.net/en/disease/detail/261766","names":{"fr":{"name":"Syndrome de délétion partielle du chromosome 1","synonyms":["Monosomie partielle du chromosome 1"]},"de":{"name":"Chromosom 1-Deletion, partielle","synonyms":["Partielle Monosomie des Chromosoms 1"]},"es":{"name":"Síndrome de deleción parcial del cromosoma 1","synonyms":["Monosomía parcial del cromosoma 1"]},"it":{"name":"Sindrome delezione parziale del cromosoma 1","synonyms":["Monosomia parziale del cromosoma 1"]},"nl":{"name":"Partiële deletie van chromosoom 1-syndroom","synonyms":["Partiële monosomie van chromosoom 1"]},"pt":{"name":"Monossomia parcial do cromossoma 1"},"pl":{"name":"Zespół częściowej delecji chromosomu 1","synonyms":["Cześciowa monosomia chromosomu 1"]},"cs":{"name":"Parciální delece chromozomu 1","synonyms":["Parciální monozomie chromozomu 1"]},"uk":{"name":"Часткова делеція хромосоми 1","synonyms":["Часткова моносомія хромосоми 1"]},"zh":{"name":"1号染色体部分缺失","synonyms":["1号染色体部分单体"]},"tr":{"name":"1. kromozomun kısmi delesyonu","synonyms":["1. kromozomun kısmi monozomisi"]}},"xrefs":[{"source":"MONDO","code":"0016866","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16866","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679647","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":262001,"name":"Partial deletion of the long arm of chromosome 1 syndrome","type":"Category"},{"orpha":261857,"name":"Partial deletion of the short arm of chromosome 1 syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}