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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 3 92,910,300 92,933,725 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        mitochondrial metabolism disease 308
          pyruvate decarboxylase deficiency 12
            Pyruvate Dehydrogenase E3-Binding Protein Deficiency 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        central nervous system disease 8117
          brain disease 7586
            disease of mental health 5530
              developmental disorder of mental health 2719
                specific developmental disorder 1891
                  intellectual disability 1713
                    syndromic intellectual disability 677
                      Mental Retardation, X-Linked 659
                        pyruvate decarboxylase deficiency 12
                          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.