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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
atransferrinemia
Summary
- Synonym
-
- familial hypotransferrinemia
- Definition
- A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22.
- Super Class
- autosomal recessive disease metal metabolism disorder
External Links
- Disease Ontology
- DOID:0050649
- Mondo Disease Ontology
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
