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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 2 26,014,954 26,094,895 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12431
    Nutritional and Metabolic Diseases 3571
      disease of metabolism 3571
        mitochondrial metabolism disease 321
          pyruvate decarboxylase deficiency 16
            Pyruvate Dehydrogenase E3-Binding Protein Deficiency 1
Path 2
Term Annotations click to browse term
  disease 12431
    disease of anatomical entity 12113
      nervous system disease 9843
        central nervous system disease 8246
          brain disease 7575
            disease of mental health 5450
              developmental disorder of mental health 2863
                specific developmental disorder 2038
                  intellectual disability 1903
                    syndromic intellectual disability 678
                      Mental Retardation, X-Linked 659
                        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.