{"orpha":261771,"name":"Partial deletion of chromosome 2 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial monosomy of chromosome 2"],"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-261771/","orphanet_url":"https://www.orpha.net/en/disease/detail/261771","names":{"fr":{"name":"Syndrome de délétion partielle du chromosome 2","synonyms":["Monosomie partielle du chromosome 2"]},"de":{"name":"Chromosom 2-Deletion, partielle","synonyms":["Partielle Monosomie des Chromosoms 2"]},"es":{"name":"Síndrome de deleción parcial del cromosoma 2","synonyms":["Monosomía parcial del cromosoma 2"]},"it":{"name":"Sindrome delezione parziale del cromosoma 2","synonyms":["Monosomia parziale del cromosoma 2"]},"nl":{"name":"Partiële deletie van chromosoom 2-syndroom","synonyms":["Partiële monosomie van chromosoom 2"]},"pt":{"name":"Monossomia parcial do cromossoma 2"},"pl":{"name":"Zespół częściowej delecji chromosomu 2","synonyms":["Cześciowa monosomia chromosomu 2"]},"cs":{"name":"Parciální delece chromozomu 2","synonyms":["Parciální monozomie chromozomu 2"]},"uk":{"name":"Часткова делеція хромосоми 2","synonyms":["Часткова моносомія хромосоми 2"]},"zh":{"name":"2号染色体部分缺失","synonyms":["2号染色体部分单体"]},"tr":{"name":"2. kromozomun kısmi delesyonu","synonyms":["2. kromozomun kısmi monozomisi"]}},"xrefs":[{"source":"MONDO","code":"0016867","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16867","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679650","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":262010,"name":"Partial deletion of the long arm of chromosome 2 syndrome","type":"Category"},{"orpha":261866,"name":"Partial deletion of the short arm of chromosome 2 syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}