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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 alt_id: OMIM:615512
 xref: GARD:5287;   NCI:C131652
For additional species annotation, visit the Alliance of Genome Resources.



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triosephosphate isomerase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Triosephosphate isomerase deficiency OMIM
ClinVar
PMID:2876430 PMID:7485100 PMID:7628118 PMID:8244340 PMID:8503454 More... NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    physical disorder 4115
      congenital hemolytic anemia 203
        congenital nonspherocytic hemolytic anemia 14
          triosephosphate isomerase deficiency 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Hemic and Lymphatic Diseases 3292
        hematopoietic system disease 2831
          anemia 665
            normocytic anemia 250
              hemolytic anemia 250
                congenital hemolytic anemia 203
                  congenital nonspherocytic hemolytic anemia 14
                    triosephosphate isomerase deficiency 1
paths to the root