{"orpha":98142,"name":"Partial autosomal deletion syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial autosomal monosomy"],"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-98142/","orphanet_url":"https://www.orpha.net/en/disease/detail/98142","names":{"fr":{"name":"Syndrome de délétions partielles des autosomes","synonyms":["Monosomies partielles des autosomes"]},"de":{"name":"Partielle autosomale Deletion","synonyms":["Autosomale Deletion, partielle","Partielle autosomale Monosomie"]},"es":{"name":"Síndrome de deleción parcial de autosomas","synonyms":["Monosomía parcial de los autosomas"]},"it":{"name":"Delezione autosomica parziale","synonyms":["Monosomia autosomica parziale"]},"nl":{"name":"Partiële autosomale deletie-syndroom","synonyms":["Partiële autosomale monosomie"]},"pt":{"name":"Deleção autossómica parcial","synonyms":["Monossomia autossómica parcial"]},"pl":{"name":"Zespół częściowej delecji autosomu","synonyms":["Częściowa delecja autosomalna","Częściowa delecja autosomu"]},"cs":{"name":"Monozomie části autozomů","synonyms":["Parciální delece autozomů"]},"uk":{"name":"Часткова аутосомна делеція","synonyms":["Часткова аутосомна моносомія"]},"zh":{"name":"部分常染色体单体","synonyms":["部分常染色体缺失"]},"tr":{"name":"Kısmi otozomal monozomi","synonyms":["Kısmi otozomal delesyon"]}},"xrefs":[{"source":"ICD-11","code":"LD44.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5816695","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":102020,"name":"Autosomal monosomy syndrome","classifications":[147,156]}],"children":[{"orpha":261766,"name":"Partial deletion of chromosome 1 syndrome","type":"Category"},{"orpha":261811,"name":"Partial deletion of chromosome 10 syndrome","type":"Category"},{"orpha":261816,"name":"Partial deletion of chromosome 11 syndrome","type":"Category"},{"orpha":282124,"name":"Partial deletion of chromosome 12 syndrome","type":"Category"},{"orpha":261826,"name":"Partial deletion of chromosome 16 syndrome","type":"Category"},{"orpha":261831,"name":"Partial deletion of chromosome 17 syndrome","type":"Category"},{"orpha":261836,"name":"Partial deletion of chromosome 18 syndrome","type":"Category"},{"orpha":261841,"name":"Partial deletion of chromosome 19 syndrome","type":"Category"},{"orpha":261771,"name":"Partial deletion of chromosome 2 syndrome","type":"Category"},{"orpha":261846,"name":"Partial deletion of chromosome 20 syndrome","type":"Category"},{"orpha":261776,"name":"Partial deletion of chromosome 3 syndrome","type":"Category"},{"orpha":261781,"name":"Partial deletion of chromosome 4 syndrome","type":"Category"},{"orpha":261786,"name":"Partial deletion of chromosome 5 syndrome","type":"Category"},{"orpha":261791,"name":"Partial deletion of chromosome 6 syndrome","type":"Category"},{"orpha":261796,"name":"Partial deletion of chromosome 7 syndrome","type":"Category"},{"orpha":261801,"name":"Partial deletion of chromosome 8 syndrome","type":"Category"},{"orpha":261806,"name":"Partial deletion of chromosome 9 syndrome","type":"Category"},{"orpha":262101,"name":"Partial deletion of the long arm of chromosome 13 syndrome","type":"Category"},{"orpha":262110,"name":"Partial deletion of the long arm of chromosome 14 syndrome","type":"Category"},{"orpha":262119,"name":"Partial deletion of the long arm of chromosome 15 syndrome","type":"Category"},{"orpha":262173,"name":"Partial deletion of the long arm of chromosome 21 syndrome","type":"Category"},{"orpha":262182,"name":"Partial deletion of the long arm of chromosome 22 syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}