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ONTOLOGY REPORT - ANNOTATIONS


Term:Pyruvate Dehydrogenase E1-Beta Deficiency
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Accession:DOID:9004857 term browser browse the term
Synonyms:exact_synonym: PDHBD
 primary_id: MESH:C566729;   RDO:0015000
 alt_id: OMIM:614111
For additional species annotation, visit the Alliance of Genome Resources.


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Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdhb pyruvate dehydrogenase E1 subunit beta JBrowse link 15 18,540,826 18,546,855 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15849
    Nutritional and Metabolic Diseases 4613
      disease of metabolism 4613
        mitochondrial metabolism disease 323
          pyruvate decarboxylase deficiency 16
            Pyruvate Dehydrogenase E1-Beta Deficiency 1
Path 2
Term Annotations click to browse term
  disease 15849
    disease of anatomical entity 15241
      nervous system disease 10711
        central nervous system disease 8827
          brain disease 8116
            disease of mental health 5750
              developmental disorder of mental health 2909
                specific developmental disorder 2076
                  intellectual disability 1916
                    syndromic intellectual disability 676
                      Mental Retardation, X-Linked 657
                        pyruvate decarboxylase deficiency 16
                          Pyruvate Dehydrogenase E1-Beta Deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.