Search Ontology:
Human Disease

hemochromatosis type 2A

Term ID
DOID:0111027
Synonyms
  • HFE2A
Definition
A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. https://www.ncbi.nlm.nih.gov/pubmed/14647275
References
Ontology
Human Disease   ( DOID:0111027 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations