{"orpha":220489,"name":"Rare hereditary hemochromatosis","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Iron overload 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-220489/","orphanet_url":"https://www.orpha.net/en/disease/detail/220489","names":{"fr":{"name":"Hémochromatose héréditaire rare","synonyms":["Maladie de surcharge en fer"]},"de":{"name":"Hämochromatose, hereditäre seltene","synonyms":["Eisenüberladung"]},"es":{"name":"Hemocromatosis hereditaria rara","synonyms":["Enfermedad por sobrecarga de hierro"]},"it":{"name":"Emocromatosi ereditaria rara","synonyms":["Malattia da sovraccarico di ferro"]},"nl":{"name":"Zeldzame erfelijke hemochromatose","synonyms":["IJzerstapelingsziekte"]},"pt":{"name":"Hemocromatose rara"},"pl":{"name":"Rzadka dziedziczna hemochromatoza","synonyms":["Choroba przeładowania żelazem"]},"cs":{"name":"Vzácná dědičná hemochromatóza","synonyms":["Nemoc z přetížení organismu železem"]},"uk":{"name":"Рідкісний спадковий гемохроматоз","synonyms":["Хвороба перевантаження залізом"]},"zh":{"name":"罕见遗传性血色病","synonyms":["铁超负荷病"],"definition":"罕见的遗传性血色病包括罕见的遗传性血色病（HH），一组以组织铁沉积过多为特征的疾病。这些罕见表型包括血色病2型（青少年）、3型（TFR2相关）和4型（铁蛋白病）（见这些词条）。血色病1型（也称为经典血色病，见该词条）不是一种罕见的疾病。"},"tr":{"name":"Nadir kalıtsal hemokromatoz","synonyms":["Aşırı demir yükü hastalığı"]}},"xrefs":[{"source":"MONDO","code":"16363","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":447792,"name":"OBSOLETE: Hemochromatosis type 5","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309842,"name":"Disorder of iron metabolism and transport","classifications":[150,156]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[{"orpha":648581,"name":"Digenic hemochromatosis","type":"Disease"},{"orpha":648569,"name":"Non-HFE-related hemochromatosis","type":"Clinical group"},{"orpha":465508,"name":"Symptomatic form of HFE-related hemochromatosis","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}