{"orpha":280400,"name":"Inherited human prion disease","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Familial prion disease","Genetic human prion disease"],"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-280400/","orphanet_url":"https://www.orpha.net/en/disease/detail/280400","names":{"fr":{"name":"Maladie à prion humaine héréditaire","synonyms":["Maladie à prion humaine génétique","Maladie à prions familiale"]},"de":{"name":"Prionkrankheit, humane vererbte","synonyms":["Familiäre Prionkrankheit","Prionkrankheit, genetisch bedingte"]},"es":{"name":"Enfermedad por priones humanos hereditaria","synonyms":["Enfermedad por priones humanos genética","Enfermedad priónica familiar"]},"it":{"name":"Malattia ereditaria da prioni","synonyms":["Malattia familiare da prioni"]},"nl":{"name":"Hereditaire humane prionziekte","synonyms":["Familiale prionziekte","Genetische humane prionziekte"]},"pt":{"name":"Doença priónica hereditária","synonyms":["Doença priónica familiar"]},"pl":{"name":"Dziedziczna choroba prionowa","synonyms":["Rodzinna choroba prionowa"]},"cs":{"name":"Dědičná prionová onemocnění","synonyms":["Familiární prionová onemocnění"]},"uk":{"name":"Спадкова пріонна хвороба людини","synonyms":["Сімейна пріонна хвороба","Генетичне пріонне захворювання людини"]},"zh":{"name":"遗传性人类朊病毒病","synonyms":["遗传性人朊病毒病"]},"tr":{"name":"Kalıtsal insan prion hastalığı","synonyms":["Ailesel prion hastalığı","Genetik insan prion hastalığı"]}},"xrefs":[{"source":"MONDO","code":"17234","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679775","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":276058,"name":"Genetic neurodegenerative disease with dementia","classifications":[156]},{"orpha":56970,"name":"Human prion disease","classifications":[181]}],"children":[{"orpha":280397,"name":"Familial Alzheimer-like prion disease","type":"Disease"},{"orpha":466,"name":"Fatal familial insomnia","type":"Disease"},{"orpha":356,"name":"Gerstmann-Straussler-Scheinker syndrome","type":"Disease"},{"orpha":157941,"name":"Huntington disease-like 1","type":"Disease"},{"orpha":282166,"name":"Inherited Creutzfeldt-Jakob disease","type":"Disease"},{"orpha":397606,"name":"PrP systemic amyloidosis","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}