ONTOLOGY REPORT - ANNOTATIONS


Term:macrocytic anemia
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Accession:DOID:2361 term browser browse the term
Definition:Anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
Synonyms:exact_synonym: Macrocytic Anemias;   Macrocytic anaemia
 primary_id: MESH:D000748;   RDO:0000376
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macrocytic anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:11554173
G Kit KIT proto-oncogene receptor tyrosine kinase JBrowse link 14 35,072,131 35,149,638 RGD:13592920
chromosome 5q deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klf1 Kruppel like factor 1 JBrowse link 19 26,016,289 26,019,557 RGD:10769343
G Rps14 ribosomal protein S14 JBrowse link 18 56,042,532 56,047,316 RGD:7240710
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:8554872
RGD:7240710
congenital intrinsic factor deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cblif cobalamin binding intrinsic factor JBrowse link 1 228,118,048 228,132,296 RGD:7240710
RGD:8554872
RGD:11049582
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:7240710
RGD:8554872
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amn amnion associated transmembrane protein JBrowse link 6 135,724,455 135,731,896 RGD:7240710
RGD:8554872
RGD:11071839
G Cblif cobalamin binding intrinsic factor JBrowse link 1 228,118,048 228,132,296 RGD:11049583
RGD:11049586
G Cubn cubilin JBrowse link 17 80,584,921 80,807,181 RGD:61796
RGD:8554872
RGD:7240710
G Traf3 Tnf receptor-associated factor 3 JBrowse link 6 135,610,698 135,720,247 RGD:8554872
megaloblastic anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amn amnion associated transmembrane protein JBrowse link 6 135,724,455 135,731,896 RGD:1599101
RGD:8554872
RGD:13592920
G Cubn cubilin JBrowse link 17 80,584,921 80,807,181 RGD:8554872
RGD:13592920
G Dhfr dihydrofolate reductase JBrowse link 2 21,931,887 21,958,927 RGD:11554173
G Maob monoamine oxidase B JBrowse link X 6,430,694 6,533,520 RGD:11554173
G Slc19a2 solute carrier family 19 member 2 JBrowse link 13 82,552,586 82,566,586 RGD:1599325
G Tcn2 transcobalamin 2 JBrowse link 14 84,173,992 84,189,299 RGD:1580450
RGD:11554173
G Traf3 Tnf receptor-associated factor 3 JBrowse link 6 135,610,698 135,720,247 RGD:8554872
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhfr dihydrofolate reductase JBrowse link 2 21,931,887 21,958,927 RGD:7240710
RGD:8554872
RGD:11039540
pernicious anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cblif cobalamin binding intrinsic factor JBrowse link 1 228,118,048 228,132,296 RGD:11049584
RGD:11049587
thiamine-responsive megaloblastic anemia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc19a2 solute carrier family 19 member 2 JBrowse link 13 82,552,586 82,566,586 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      hematopoietic system disease 1365
        anemia 367
          macrocytic anemia 14
            chromosome 5q deletion syndrome 2
            megaloblastic anemia + 10
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Hemic and Lymphatic Diseases 1580
        hematopoietic system disease 1365
          anemia 367
            macrocytic anemia 14
              chromosome 5q deletion syndrome 2
              megaloblastic anemia + 10
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.