FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term atransferrinemia ID (Ontology) DOID:0050649 (Human Disease)
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.
Also Known As "familial hypotransferrinemia"
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 Genes
 atransferrinemia       2
 for disease ribbon | atransferrinemia       2
 model of | atransferrinemia       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
inherited metabolic disorder     |
 |__metal metabolism disorder____|
                                 atransferrinemia  2 rec.
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Is a autosomal recessive disease
metal metabolism disorder
Part of
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Synonyms
  • "familial hypotransferrinemia" EXACT
Secondary IDs
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GARD:9595
MIM:209300
NCI:C125693
ORDO:1195