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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
Synonyms:exact_synonym: Pyruvate Kinase Hyperactivity
 primary_id: MESH:C566310
 alt_id: OMIM:102900
For additional species annotation, visit the Alliance of Genome Resources.


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Elevated Adenosine Triphosphate of Erythrocytes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by OMIM:102900
ClinVar Annotator: match by term: Adenosine triphosphate, elevated, of erythrocytes
OMIM
ClinVar
PMID:4160306 PMID:7706479 PMID:7948315 PMID:8483951 PMID:9090535 PMID:9827908 PMID:11054094 PMID:11328279 PMID:11960989 PMID:16704447 PMID:17574881 PMID:18759866 PMID:24033266 PMID:25741868 PMID:26728349 PMID:27346685 PMID:27871768 PMID:28133914 PMID:28492532 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      hematopoietic system disease 1760
        Elevated Adenosine Triphosphate of Erythrocytes 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      Hemic and Lymphatic Diseases 2175
        hematopoietic system disease 1760
          Elevated Adenosine Triphosphate of Erythrocytes 1
paths to the root