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ONTOLOGY REPORT - ANNOTATIONS


Term:Pyruvate Dehydrogenase E1 Alpha Deficiency
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Accession:DOID:9000982 term browser browse the term
Synonyms:exact_synonym: Lactic Acidemia, Thiamine Responsive;   pyruvate decarboxylase
 primary_id: MESH:C564071
 alt_id: RDO:0013154
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Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 JBrowse link X 37,329,779 37,343,410 RGD:8554872
G Pdhx pyruvate dehydrogenase complex, component X JBrowse link 3 92,910,300 92,933,725 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    Nutritional and Metabolic Diseases 4395
      disease of metabolism 4395
        mitochondrial metabolism disease 314
          pyruvate decarboxylase deficiency 12
            Pyruvate Dehydrogenase E1 Alpha Deficiency 2
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        central nervous system disease 8410
          brain disease 7763
            disease of mental health 5617
              developmental disorder of mental health 2797
                specific developmental disorder 1964
                  intellectual disability 1788
                    syndromic intellectual disability 676
                      Mental Retardation, X-Linked 657
                        pyruvate decarboxylase deficiency 12
                          Pyruvate Dehydrogenase E1 Alpha Deficiency 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.