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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:Elevated Adenosine Triphosphate of Erythrocytes
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Accession:DOID:9002812 term browser browse the term
Definition:Autosomal dominant phenotype characterized by increase of red blood cell ATP.
Synonyms:exact_synonym: PKHYP;   Pyruvate Kinase Hyperactivity;   adenosine triphosphate, elevated, of erythrocytes
 broad_synonym: PKLR-RELATED CONDITION
 primary_id: MESH:C566310
 alt_id: MIM:102900
 xref: EFO:0005840


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      hematopoietic system disease 3834
        Elevated Adenosine Triphosphate of Erythrocytes 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      Hemic and Lymphatic Diseases 4343
        hematopoietic system disease 3834
          Elevated Adenosine Triphosphate of Erythrocytes 1
paths to the root