Search Ontology:
Human Disease

hemochromatosis type 1

Term ID
DOID:0111029
Synonyms
  • HFE1
  • symptomatic form of classic hemochromatosis
  • symptomatic form of hemochromatosis type 1
  • symptomatic form of HFE-related hereditary hemochromatosis
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
References
Ontology
Human Disease   ( DOID:0111029 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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