OBO ID: DOID:0111030
Term Name: hemochromatosis type 3 Search Ontology:
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:
OTHER hemochromatosis type 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TFR2 Hemochromatosis, type 3 604250
ZEBRAFISH MODELS
Fish Conditions Citations
tfr2f6/f6 standard conditions Basu et al., 2018
PHENOTYPE No data available

CITATIONS (1)
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