FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hemochromatosis type 4 ID (Ontology) DOID:0111028 (Human Disease)
Definition A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32.
Also Known As "autosomal dominant hereditary hemochromatosis" ; "ferroportin disease" ; "hemochromatosis due to defect in ferroportin" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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  metal metabolism disorder
   |__hemochromatosis
       |__hemochromatosis type 4
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Synonyms
  • "autosomal dominant hereditary hemochromatosis" EXACT
    "ferroportin disease" EXACT
    "hemochromatosis due to defect in ferroportin" EXACT
    "HFE4" EXACT OMO:0003012
Secondary IDs
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GARD:10094
MESH:C537249
MIM:606069
ORDO:139491
SNOMEDCT_US_2023_03_01:719975002
UMLS_CUI:C1853733