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Metadata
ID DOID:0111028
Name hemochromatosis type 4
Definition A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32.
https://www.ncbi.nlm.nih.gov/pubmed/11431687
Xrefs

GARD:10094

MESH:C537249

OMIM:606069

ORDO:139491

SNOMEDCT_US_2023_03_01:719975002

UMLS_CUI:C1853733

Subsets

DO_rare_slim

Synonyms

autosomal dominant hereditary hemochromatosis [EXACT]

ferroportin disease [EXACT]

hemochromatosis due to defect in ferroportin [EXACT]

HFE4 [EXACT]

Parent Relationships

is_a hemochromatosis

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