Search Ontology:
Human Disease

hemochromatosis type 3

Term ID
DOID:0111030
Synonyms
  • hemochromatosis due to defect in transferrin receptor 2
  • HFE3
  • TFR2-related hemochromatosis
Definition
A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. https://www.ncbi.nlm.nih.gov/pubmed/10802645
References
Ontology
Human Disease   ( DOID:0111030 )
Relationships
is a type of
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Genes Involved
Zebrafish Models