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ONTOLOGY REPORT - ANNOTATIONS


Term:triosephosphate isomerase deficiency
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Accession:DOID:0050884 term browser browse the term
Definition:A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. (DO)
Synonyms:exact_synonym: TPID;   Triose phosphate-isomerase deficiency
 related_synonym: TPI-HUNGARY
 primary_id: MESH:C566029;   RDO:0014509
 alt_id: OMIM:615512
 xref: GARD:5287
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triosephosphate isomerase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpi1 triosephosphate isomerase 1 JBrowse link 4 157,328,375 157,331,905 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    Nutritional and Metabolic Diseases 4644
      disease of metabolism 4644
        glucose metabolism disease 1748
          triosephosphate isomerase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      Hemic and Lymphatic Diseases 1996
        hematopoietic system disease 1595
          anemia 382
            normocytic anemia 170
              hemolytic anemia 170
                congenital hemolytic anemia 130
                  congenital nonspherocytic hemolytic anemia 14
                    triosephosphate isomerase deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.