ONTOLOGY REPORT - ANNOTATIONS


Term:methemoglobinemia
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Accession:DOID:10783 term browser browse the term
Definition:The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed)
Synonyms:exact_synonym: Methemoglobinemias
 primary_id: MESH:D008708;   RDO:0003750
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methemoglobinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyb5a cytochrome b5 type A JBrowse link 18 81,694,818 81,726,821 RGD:1599659
G Cyb5r3 cytochrome b5 reductase 3 JBrowse link 7 124,024,003 124,041,564 RGD:1599771
RGD:11554173
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 JBrowse link 8 62,451,360 62,458,244 RGD:11554173
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10755319
G Hba-a2 hemoglobin alpha, adult chain 2 JBrowse link 10 15,589,364 15,590,207 RGD:11554173
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:11554173
Congenital Methemoglobinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyb5a cytochrome b5 type A JBrowse link 18 81,694,818 81,726,821 RGD:11352693
RGD:11352695
Methemoglobinemia Type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyb5a cytochrome b5 type A JBrowse link 18 81,694,818 81,726,821 RGD:7240710
RGD:8554872
Methemoglobinemia, Alpha-Globin Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hba-a2 hemoglobin alpha, adult chain 2 JBrowse link 10 15,589,364 15,590,207 RGD:7240710
Methemoglobinemia, Beta-Globin Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:7240710
RGD:8554872
NADH Cytochrome B5 Reductase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyb5r3 cytochrome b5 reductase 3 JBrowse link 7 124,024,003 124,041,564 RGD:7240710
RGD:8554872
RGD:11040533

Term paths to the root
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Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      hematopoietic system disease 1365
        methemoglobinemia 6
          Congenital Methemoglobinemia 1
          Hemoglobin M Disease 0
          Methemoglobinemia Type IV 1
          Methemoglobinemia, Alpha-Globin Type 1
          Methemoglobinemia, Beta-Globin Type 1
          NADH Cytochrome B5 Reductase Deficiency 1
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
            normocytic anemia 172
              hemolytic anemia 172
                congenital hemolytic anemia 123
                  hemoglobinopathy 92
                    methemoglobinemia 6
                      Congenital Methemoglobinemia 1
                      Hemoglobin M Disease 0
                      Methemoglobinemia Type IV 1
                      Methemoglobinemia, Alpha-Globin Type 1
                      Methemoglobinemia, Beta-Globin Type 1
                      NADH Cytochrome B5 Reductase Deficiency 1
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