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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:Hexokinase Deficiency Hemolytic Anemia
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Accession:DOID:9000780 term browser browse the term
Synonyms:primary_id: MESH:C562995;   RDO:0012464
For additional species annotation, visit the Alliance of Genome Resources.



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Hexokinase Deficiency Hemolytic Anemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Hexokinase deficiency hemolytic anemia ClinVar PMID:6848140 PMID:7655856 PMID:12393545 PMID:25741868 PMID:28492532 More... NCBI chr20:30,230,488...30,332,161
Ensembl chr20:30,230,486...30,332,131
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      hematopoietic system disease 1969
        anemia 448
          normocytic anemia 205
            hemolytic anemia 205
              Hexokinase Deficiency Hemolytic Anemia 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      Hemic and Lymphatic Diseases 2394
        hematopoietic system disease 1969
          anemia 448
            normocytic anemia 205
              hemolytic anemia 205
                Hexokinase Deficiency Hemolytic Anemia 1
paths to the root