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ONTOLOGY REPORT - ANNOTATIONS


Term:pyruvate kinase deficiency of red cells
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Accession:DOID:0111077 term browser browse the term
Definition:A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. (DO)
Synonyms:exact_synonym: PK Deficiency;   Pyruvate Kinase Deficiency;   Pyruvate Kinase Deficiency of Erythrocyte;   hemolytic anemia due to red cell pyruvate kinase deficiency
 primary_id: MESH:C564858
 alt_id: OMIA:000844;   OMIM:266200;   RDO:0013678
 xref: GARD:7514;   ORDO:766
For additional species annotation, visit the Alliance of Genome Resources.


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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:11535996
RGD:11537382
RGD:11537470

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Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          congenital hemolytic anemia 124
            congenital nonspherocytic hemolytic anemia 10
              pyruvate kinase deficiency of red cells 2
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      Hemic and Lymphatic Diseases 1704
        hematopoietic system disease 1426
          anemia 374
            normocytic anemia 174
              hemolytic anemia 174
                congenital hemolytic anemia 124
                  congenital nonspherocytic hemolytic anemia 10
                    pyruvate kinase deficiency of red cells 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.