About: HFE-Associated Hereditary Hemochromatosis     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • HFE-Associated Hereditary Hemochromatosis
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • HFE-Associated Hereditary Hemochromatosis
UMLS_CUI
  • C2827503
FULL_SYN
  • HFE-Associated Hereditary HemochromatosisPTNCI
DEFINITION
  • A hereditary disorder of iron metabolism caused by mutations in the HFE gene. It is characterized by increased absorption of iron in the gastrointestinal mucosa. It results in abnormal iron accumulation in the liver, pancreas, skin, joints, heart, and testes. It may lead to skin pigmentation, liver failure, heart failure, and hypogonadism.NCI
code
  • C84764
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