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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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          congenital hemolytic anemia 125
            congenital nonspherocytic hemolytic anemia 10
              pyruvate kinase deficiency of red cells 2
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Hemic and Lymphatic Diseases 1723
        hematopoietic system disease 1451
          anemia 376
            normocytic anemia 175
              hemolytic anemia 175
                congenital hemolytic anemia 125
                  congenital nonspherocytic hemolytic anemia 10
                    pyruvate kinase deficiency of red cells 2
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