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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:hemolytic anemia due to erythrocyte adenosine deaminase overproduction
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Accession:EFO:MONDO:0020458 term browser browse the term
Definition:Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.
Synonyms:exact_synonym: adenosine deaminase, elevated, hemolytic anaemia due to;   adenosine deaminase, elevated, hemolytic anemia due to
 alt_id: MONDO:0020458
 xref: GARD:19669;   MEDGEN:400240;   MESH:C566314;   MIM:102730;   MIM:301083;   ORDO:99138;   UMLS:C1863235;   icd11.foundation:1200845933


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            familial hemolytic anemia 0
              hemolytic anemia due to erythrocyte adenosine deaminase overproduction 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      quality 0
        phenotype 0
          Phenotypic abnormality 0
            Abnormality of blood and blood-forming tissues 0
              Abnormal erythrocyte morphology 0
                anemia (phenotype) 0
                  anemia due to enzyme disorder 0
                    hemolytic anemia due to erythrocyte adenosine deaminase overproduction 0
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