OBO ID: DOID:0111029
Term Name: hemochromatosis type 1 Search Ontology:
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 hemochromatosis type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BMP2 {HFE hemochromatosis, modifier of} 235200
HFE Hemochromatosis, type 1
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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