Search Ontology:
Human Disease
hemochromatosis type 4
- Term ID
- DOID:0111028
- Synonyms
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- autosomal dominant hereditary hemochromatosis
- ferroportin disease
- hemochromatosis due to defect in ferroportin
- HFE4
- Definition
- A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. https://www.ncbi.nlm.nih.gov/pubmed/11431687
- References
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- GARD:10094
- MESH:C537249
- MIM:606069
- ORDO:139491
- SNOMEDCT_US_2023_03_01:719975002
- UMLS_CUI:C1853733
- Ontology
- Human Disease ( DOID:0111028 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models