{"orpha":250811,"name":"Serpinopathy with loss of serpin function","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-250811/","orphanet_url":"https://www.orpha.net/en/disease/detail/250811","names":{"fr":{"name":"Serpinopathie avec perte de fonction"},"de":{"name":"Serpinopathie mit Verlust der Serpin-Funktion"},"es":{"name":"Serpinopatía con pérdida de función de la serpina"},"it":{"name":"Serpinopatia con perdita di funzione della serpina"},"nl":{"name":"Serpinopathie met verlies van serpinefunctie"},"pt":{"name":"Serpinopatia com perda da função da serpina"},"pl":{"name":"Serpinopatia z utratą funkcji serpiny"},"cs":{"name":"Serpinopatie se ztrátou funkce serpinu"},"uk":{"name":"Серпінопатія з втратою функції серпіну"},"zh":{"name":"丝氨酸蛋白酶抑制剂病变伴丝氨酸蛋白酶抑制剂功能障碍"},"tr":{"name":"Serpin fonksiyon kaybı ile seyreden serpinopati"}},"xrefs":[{"source":"UMLS","code":"C5680705","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98053,"name":"Rare genetic disease"},"parents":[{"orpha":250805,"name":"Serpinopathy","classifications":[156]}],"children":[{"orpha":79,"name":"Congenital alpha2-antiplasmin deficiency","type":"Disease"},{"orpha":199247,"name":"Corticosteroid-binding globulin deficiency","type":"Disease"},{"orpha":289586,"name":"Exfoliative ichthyosis","type":"Disease"},{"orpha":528623,"name":"Hereditary angioedema with C1Inh deficiency","type":"Disease"},{"orpha":82,"name":"Hereditary thrombophilia due to congenital antithrombin deficiency","type":"Disease"},{"orpha":140966,"name":"Palmoplantar keratoderma, Nagashima type","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}