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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 2 103,021,055 103,073,513 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13044
    Nutritional and Metabolic Diseases 3783
      disease of metabolism 3783
        mitochondrial metabolism disease 349
          pyruvate decarboxylase deficiency 16
            Pyruvate Dehydrogenase E3-Binding Protein Deficiency 1
Path 2
Term Annotations click to browse term
  disease 13044
    disease of anatomical entity 12695
      nervous system disease 10224
        central nervous system disease 8555
          brain disease 7857
            disease of mental health 5654
              developmental disorder of mental health 2958
                specific developmental disorder 2085
                  intellectual disability 1945
                    syndromic intellectual disability 686
                      Mental Retardation, X-Linked 667
                        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.