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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 NW_004955422 11,335,766 11,405,565 RGD:7240710
RGD:9068941

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Path 1
Term Annotations click to browse term
  disease 11656
    Nutritional and Metabolic Diseases 3354
      disease of metabolism 3354
        mitochondrial metabolism disease 306
          pyruvate decarboxylase deficiency 15
            Pyruvate Dehydrogenase E3-Binding Protein Deficiency 1
Path 2
Term Annotations click to browse term
  disease 11656
    disease of anatomical entity 11346
      nervous system disease 9243
        central nervous system disease 7753
          brain disease 7117
            disease of mental health 5085
              developmental disorder of mental health 2683
                specific developmental disorder 1941
                  intellectual disability 1808
                    syndromic intellectual disability 608
                      Mental Retardation, X-Linked 589
                        pyruvate decarboxylase deficiency 15
                          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.