Search Ontology:
Human Disease
atransferrinemia
- Term ID
- DOID:0050649
- Synonyms
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- 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. (3)
- References
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- GARD:9595
- MIM:209300
- NCI:C125693
- ORDO:1195
- Ontology
- Human Disease ( DOID:0050649 )
- is a type of
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Genes Involved
Zebrafish Models