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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital nonspherocytic hemolytic anemia
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Accession:DOID:2861 term browser browse the term
Definition:Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE.
Synonyms:exact_synonym: CNSHA;   HNSHA;   chronic nonspherocytic hemolytic anemia;   hereditary nonspherocytic hemolytic anemia
 primary_id: MESH:D000746;   RDO:0004830
 xref: ORDO:712
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congenital nonspherocytic hemolytic anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ak1 adenylate kinase 1 JBrowse link 3 11,652,143 11,659,135 RGD:11100022
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:13592920
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:1599812
RGD:11554173
RGD:10449107
G Gpi glucose-6-phosphate isomerase JBrowse link 1 90,063,411 90,091,287 RGD:1600633
RGD:13592920
RGD:11051955
RGD:11051849
G Hk1 hexokinase 1 JBrowse link 20 31,911,460 31,979,780 RGD:1601519
RGD:11353878
G Nt5c3a 5'-nucleotidase, cytosolic IIIA JBrowse link 4 87,238,325 87,281,234 RGD:11554173
G Pklr pyruvate kinase L/R JBrowse link 2 188,449,158 188,458,034 RGD:11535979
RGD:11535981
RGD:11535983
RGD:11535987
G Tpi1 triosephosphate isomerase 1 JBrowse link 4 157,328,375 157,331,905 RGD:11554173
favism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:11554173
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:11554173
RGD:8554872
RGD:7240710
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:8554872
Heinz body anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:11059501
G Hba-a2 hemoglobin alpha, adult chain 2 JBrowse link 10 15,589,364 15,590,207 RGD:7240710
RGD:8554872
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:1600889
RGD:8554872
RGD:7240710
pyruvate kinase deficiency of red cells term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 JBrowse link 2 188,458,851 188,471,916 RGD:8554872
G Pklr pyruvate kinase L/R JBrowse link 2 188,449,158 188,458,034 RGD:7240710
RGD:8554872
RGD:11537470
RGD:11537382
RGD:11535996
triosephosphate isomerase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpi1 triosephosphate isomerase 1 JBrowse link 4 157,328,375 157,331,905 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          congenital hemolytic anemia 125
            congenital nonspherocytic hemolytic anemia 13
              Adenosine Triphosphatase Deficiency, Anemia Due To 0
              Heinz body anemia 3
              Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 0
              Nonspherocytic Hemolytic Anemia, associated with Abnormality of Red Cell Membrane 0
              Nonspherocytic Hemolytic Anemia, possibly due to Defect in Porphyrin Metabolism 0
              favism 3
              pyruvate kinase deficiency of red cells 2
              triosephosphate isomerase deficiency 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      Hemic and Lymphatic Diseases 0
        hematopoietic system disease 1451
          anemia 376
            normocytic anemia 175
              hemolytic anemia 175
                congenital hemolytic anemia 125
                  congenital nonspherocytic hemolytic anemia 13
                    Adenosine Triphosphatase Deficiency, Anemia Due To 0
                    Heinz body anemia 3
                    Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 0
                    Nonspherocytic Hemolytic Anemia, associated with Abnormality of Red Cell Membrane 0
                    Nonspherocytic Hemolytic Anemia, possibly due to Defect in Porphyrin Metabolism 0
                    favism 3
                    pyruvate kinase deficiency of red cells 2
                    triosephosphate isomerase deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.