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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 Hexokinase Deficiency
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Accession:DOID:9006276 term browser browse the term
Synonyms:primary_id: OMIM:235700
 alt_id: RDO:0008317
For additional species annotation, visit the Alliance of Genome Resources.


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Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by OMIM:235700 OMIM
ClinVar
PMID:6848140, PMID:7655856, PMID:12393545 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
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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 Hexokinase 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
                Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.