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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: OMIM:102900
 xref: EFO:0005840



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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 IAGP
EXP
ClinVar Annotator: match by term: Adenosine triphosphate, elevated, of erythrocytes
ClinVar Annotator: match by term: Pyruvate kinase hyperactivity
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4160306 PMID:7655861 PMID:7706479 PMID:7919353 PMID:7948315 More... NCBI chr 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      hematopoietic system disease 4977
        Elevated Adenosine Triphosphate of Erythrocytes 1
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      Hemic and Lymphatic Diseases 5692
        hematopoietic system disease 4977
          Elevated Adenosine Triphosphate of Erythrocytes 1
paths to the root