{"orpha":447874,"name":"Biological anomaly without phenotypic characterization","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-447874/","orphanet_url":"https://www.orpha.net/en/disease/detail/447874","names":{"fr":{"name":"Anomalie biologique sans caractérisation phenotypique"},"de":{"name":"Biologische Anomalie ohne phänotypische Charakterisierung"},"es":{"name":"Anomalías biológicas sin caracterización fenotípica"},"it":{"name":"Anomalia biologica senza caratterizzazione fenotipica"},"nl":{"name":"Biologische anomalie zonder fenotypische karakterisering"},"pt":{"name":"Anomalia biológica sem caracterização fenotípica"},"pl":{"name":"Anomalie biologiczne bez charakterystyki fenotypowej"},"cs":{"name":"Biologická anomálie bez fenotypové charakterizace"},"uk":{"name":"Біологічна аномалія без фенотипової характеристики"},"zh":{"name":"无临床表型的生物学指标异常"},"tr":{"name":"Fenotipik karakterizasyon göstermeyen biyolojik anomali"}},"xrefs":[{"source":"MONDO","code":"18652","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681202","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":93594,"name":"OBSOLETE: Alpha-1-antichymotrypsin deficiency","status":"inactive"}],"preferential_parent":{"orpha":98053,"name":"Rare genetic disease"},"parents":[{"orpha":98053,"name":"Rare genetic disease","classifications":[156]}],"children":[{"orpha":1035,"name":"Beta-mercaptolactate cysteine disulfiduria","type":"Biological anomaly"},{"orpha":1361,"name":"Carnosinase deficiency","type":"Biological anomaly"},{"orpha":168612,"name":"Congenital deficiency in alpha-fetoprotein","type":"Biological anomaly"},{"orpha":254704,"name":"Genetic hyperferritinemia without iron overload","type":"Biological anomaly"},{"orpha":168615,"name":"Hereditary persistence of alpha-fetoprotein","type":"Biological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}