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
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Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdhb pyruvate dehydrogenase E1 beta subunit 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 14926
    Nutritional and Metabolic Diseases 4280
      disease of metabolism 4280
        mitochondrial metabolism disease 332
          pyruvate decarboxylase deficiency 12
            Pyruvate Dehydrogenase E1-Beta Deficiency 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        central nervous system disease 6948
          brain disease 6452
            disease of mental health 4334
              developmental disorder of mental health 2608
                specific developmental disorder 1771
                  intellectual disability 1599
                    syndromic intellectual disability 666
                      Mental Retardation, X-Linked 652
                        pyruvate decarboxylase deficiency 12
                          Pyruvate Dehydrogenase E1-Beta 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.