{"orpha":98127,"name":"Autosomal anomaly syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-98127/","orphanet_url":"https://www.orpha.net/en/disease/detail/98127","names":{"fr":{"name":"Syndrome d'anomalie des autosomes"},"de":{"name":"Autosomen-Anomalie"},"es":{"name":"Síndrome de anomalía autosómica"},"it":{"name":"Sindrome anomalia autosomica"},"nl":{"name":"Autosomale anomalie-syndroom"},"pt":{"name":"Anomalia autossómica"},"pl":{"name":"Zespół aberracji autosomalnej"},"cs":{"name":"Aberace autozomů"},"uk":{"name":"Аутосомна аномалія"},"zh":{"name":"常染色体异常"},"tr":{"name":"Otozomal anomali"}},"xrefs":[{"source":"MONDO","code":"0020049","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681496","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":68335,"name":"Rare chromosomal anomaly","classifications":[147,156]}],"children":[{"orpha":102020,"name":"Autosomal monosomy syndrome","type":"Category"},{"orpha":98130,"name":"Autosomal trisomy syndrome","type":"Category"},{"orpha":98152,"name":"Autosomal uniparental disomy syndrome","type":"Category"},{"orpha":263708,"name":"Complex chromosomal rearrangement syndrome","type":"Category"},{"orpha":363203,"name":"Ring chromosome syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}