FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hemochromatosis type 2 ID (Ontology) DOID:0111034 (Human Disease)
Definition A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis.
Also Known As "HFE2" ; "JHH" ; "juvenile hemochromatosis"
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  metal metabolism disorder
   |__hemochromatosis
       |__hemochromatosis type 2
           |__hemochromatosis type 2A
           |__hemochromatosis type 2B
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Synonyms
  • "HFE2" EXACT OMO:0003012
    "JHH" EXACT OMO:0003012
    "juvenile hemochromatosis" EXACT
Secondary IDs
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GARD:10092
ICD10CM:E83.1
MESH:C537247
ORDO:79230