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ONTOLOGY REPORT - ANNOTATIONS


Term:Pyruvate Dehydrogenase Phosphatase Deficiency
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Accession:DOID:9005740 term browser browse the term
Synonyms:exact_synonym: Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency;   PDHPD
 primary_id: MESH:C536258;   RDO:0001763
 alt_id: OMIM:608782
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Pyruvate Dehydrogenase Phosphatase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdp1 pyruvate dehyrogenase phosphatase catalytic subunit 1 JBrowse link 5 25,577,593 25,584,325 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15851
    Nutritional and Metabolic Diseases 4614
      disease of metabolism 4614
        acquired metabolic disease 2718
          metabolic acidosis 39
            lactic acidosis 30
              Pyruvate Dehydrogenase Phosphatase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 15851
    Nutritional and Metabolic Diseases 4614
      disease of metabolism 4614
        Acid-Base Imbalance 78
          Acidoses 67
            metabolic acidosis 39
              lactic acidosis 30
                Pyruvate Dehydrogenase Phosphatase 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.