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ONTOLOGY REPORT - ANNOTATIONS


Term:Pyruvate Dehydrogenase E2 Deficiency
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Accession:DOID:9008243 term browser browse the term
Definition:Pyruvate dehydrogenase E2 deficiency is caused by homozygous mutation in the DLAT gene on chromosome 11q23. (OMIM)
Synonyms:exact_synonym: Dihydrolipoyl transacetylase;   Lactic Acidemia due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex;   PDHDD
 primary_id: MESH:C565448;   RDO:0014081
 alt_id: OMIM:245348
For additional species annotation, visit the Alliance of Genome Resources.


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Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlat dihydrolipoamide S-acetyltransferase JBrowse link 8 55,062,549 55,087,832 RGD:7240710
RGD:8554872
G Pih1d2 PIH1 domain containing 2 JBrowse link 8 55,050,284 55,060,289 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15036
    Nutritional and Metabolic Diseases 4255
      disease of metabolism 4255
        mitochondrial metabolism disease 304
          pyruvate decarboxylase deficiency 12
            Pyruvate Dehydrogenase E2 Deficiency 2
Path 2
Term Annotations click to browse term
  disease 15036
    disease of anatomical entity 14171
      nervous system disease 9229
        central nervous system disease 6942
          brain disease 6442
            disease of mental health 4334
              developmental disorder of mental health 2595
                specific developmental disorder 1763
                  intellectual disability 1592
                    syndromic intellectual disability 666
                      Mental Retardation, X-Linked 652
                        pyruvate decarboxylase deficiency 12
                          Pyruvate Dehydrogenase E2 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.