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ONTOLOGY REPORT - ANNOTATIONS


Term:atransferrinemia
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Accession:DOID:0050649 term browser browse the term
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 on chromosome 3q22. (DO)
Synonyms:exact_synonym: Congenital Atransferrinemia;   Familial hypotransferrinemia
 narrow_synonym: HYPOTRANSFERRINEMIA, FAMILIAL TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1;   TFQTL1
 related_synonym: TRANSFERRIN VARIANT CHI
 primary_id: MESH:C538259;   RDO:0004215
 alt_id: OMIM:209300
 xref: GARD:9595;   NCI:C125693;   ORDO:1195
For additional species annotation, visit the Alliance of Genome Resources.


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atransferrinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:11041615
G Tf transferrin JBrowse link 8 111,694,570 111,721,275 RGD:7240710
RGD:8554872
RGD:11554173

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Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          metal metabolism disorder 117
            atransferrinemia 2
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                atransferrinemia 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.