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Metadata
ID DOID:0111029
Name hemochromatosis type 1
Definition A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.
https://www.ncbi.nlm.nih.gov/pubmed/8696333
Xrefs

GARD:10417

ICD10CM:E83.1

OMIM:235200

ORDO:465508

Synonyms

HFE1 [EXACT]

symptomatic form of classic hemochromatosis [EXACT]

symptomatic form of hemochromatosis type 1 [EXACT]

symptomatic form of HFE-related hereditary hemochromatosis [EXACT]

Parent Relationships

is_a hemochromatosis

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