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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:congenital nonspherocytic hemolytic anemia
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Accession:EFO:1000641 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: HNSHA;   hereditary nonspherocytic hemolytic anaemia;   hereditary nonspherocytic hemolytic anemia
 xref: DOID:2861;   ICD9:282.3;   MEDGEN:284;   MESH:D000746;   MONDO:0006506;   SCTID:301317008;   UMLS:C0002882


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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            familial hemolytic anemia 0
              congenital nonspherocytic hemolytic anemia 0
                anemia, nonspherocytic hemolytic + 0
                hemolytic anemia due to glucophosphate isomerase deficiency 0
                pyruvate kinase deficiency of red cells 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          hematologic disease 0
            anemia 0
              normocytic anemia 0
                familial hemolytic anemia 0
                  congenital nonspherocytic hemolytic anemia 0
                    anemia, nonspherocytic hemolytic + 0
                    hemolytic anemia due to glucophosphate isomerase deficiency 0
                    pyruvate kinase deficiency of red cells 0
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