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ONTOLOGY REPORT - ANNOTATIONS


Term:Pyruvate Dehydrogenase E3-Binding Protein Deficiency
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Accession:DOID:9003678 term browser browse the term
Synonyms:exact_synonym: Dihydrolipoyl dehydrogenase;   Lactic Acidemia due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex;   PDHXD
 primary_id: MESH:C565447;   RDO:0014080
 alt_id: OMIM:245349
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Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDHX pyruvate dehydrogenase complex component X JBrowse link 18 32,947,883 33,011,845 RGD:7240710
RGD:9068941

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Path 1
Term Annotations click to browse term
  disease 12489
    Nutritional and Metabolic Diseases 3602
      disease of metabolism 3602
        mitochondrial metabolism disease 321
          pyruvate decarboxylase deficiency 16
            Pyruvate Dehydrogenase E3-Binding Protein Deficiency 1
Path 2
Term Annotations click to browse term
  disease 12489
    disease of anatomical entity 12172
      nervous system disease 9898
        central nervous system disease 8279
          brain disease 7612
            disease of mental health 5487
              developmental disorder of mental health 2886
                specific developmental disorder 2058
                  intellectual disability 1921
                    syndromic intellectual disability 682
                      Mental Retardation, X-Linked 663
                        pyruvate decarboxylase deficiency 16
                          Pyruvate Dehydrogenase E3-Binding Protein Deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.