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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;   GPI-RELATED CONDITION
 narrow_synonym: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
 primary_id: OMIM:613470


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GPI-related condition | 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
CTD
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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital hemolytic anemia 348
        Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          anemia 786
            normocytic anemia 679
              hemolytic anemia 418
                congenital hemolytic anemia 348
                  Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency 1
paths to the root