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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
ClinVar Annotator: match by term: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
OMIM
ClinVar
PMID:6848140 PMID:7655856 PMID:12393545 PMID:25741868 PMID:28492532 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 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        inherited metabolic disorder 2633
          Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      Hemic and Lymphatic Diseases 2332
        hematopoietic system disease 1913
          anemia 431
            normocytic anemia 202
              hemolytic anemia 202
                Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency 1
paths to the root