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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:triosephosphate isomerase deficiency
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Accession:EFO:MONDO:0014221 term browser browse the term
Definition:Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
Synonyms:exact_synonym: hemolytic anaemia due to triosephosphate isomerase deficiency;   hemolytic anemia due to triosephosphate isomerase deficiency;   triose phosphate-isomerase deficiency
 related_synonym: TPI deficiency;   TPID
 alt_id: MONDO:0014221
 xref: DOID:0050884;   GARD:5287;   ICD9:282.3;   MEDGEN:349893;   MESH:C566029;   MIM:615512;   NCI:C131652;   NORD:1793;   ORDO:868;   SCTID:234405009;   UMLS:C1860808
 see_also: https://rarediseases.info.nih.gov/diseases/5287/triosephosphate-isomerase-deficiency" xsd:anyURI {source="GARD:0005287


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            glucose metabolism disease 0
              triosephosphate isomerase deficiency 0
Path 2
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  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
                    anemia due to erythrocyte enzyme disorder 0
                      triosephosphate isomerase deficiency 0
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