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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
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 term: Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency | ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency OMIM
ClinVar
PMID:4076245 PMID:7989588 PMID:8499925 PMID:8822952 PMID:8822954 More... NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18213
    physical disorder 4311
      congenital hemolytic anemia 304
        Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 18213
    disease of anatomical entity 17574
      Hemic and Lymphatic Diseases 3424
        hematopoietic system disease 2965
          anemia 778
            normocytic anemia 364
              hemolytic anemia 364
                congenital hemolytic anemia 304
                  Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency 1
paths to the root