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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:Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency
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Accession:DOID:9005912 term browser browse the term
Synonyms:exact_synonym: DISORDER OF GLYCOLYSIS
 narrow_synonym: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
 primary_id: OMIM:613470
 alt_id: RDO:0009896
For additional species annotation, visit the Alliance of Genome Resources.


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Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by OMIM:613470
ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency
ClinVar Annotator: match by term: Disorder of glycolysis
ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
OMIM
ClinVar
PMID:4076245, PMID:8499925, PMID:8822954, PMID:9856489, PMID:24033266, PMID:32581362 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Hemic and Lymphatic Diseases 2067
        hematopoietic system disease 1653
          anemia 417
            normocytic anemia 182
              hemolytic anemia 182
                congenital hemolytic anemia 138
                  Nonspherocytic Hemolytic Anemia due to Glucose Phosphate 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.