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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 11 34,915,829 34,996,128 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16990
    Nutritional and Metabolic Diseases 4826
      disease of metabolism 4826
        mitochondrial metabolism disease 364
          pyruvate decarboxylase deficiency 16
            Pyruvate Dehydrogenase E3-Binding Protein Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16990
    disease of anatomical entity 16013
      nervous system disease 12298
        central nervous system disease 10410
          brain disease 9612
            disease of mental health 7184
              developmental disorder of mental health 4011
                specific developmental disorder 2411
                  intellectual disability 2267
                    syndromic intellectual disability 847
                      Mental Retardation, X-Linked 827
                        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.