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ONTOLOGY REPORT - ANNOTATIONS


Term:Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
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Accession:DOID:9000520 term browser browse the term
Synonyms:exact_synonym: PCK2 deficiency;   PEPCK2 deficiency;   Phosphoenolpyruvate Carboxykinase 2 Deficiency
 primary_id: MESH:C564890
 alt_id: MESH:C536655;   OMIM:261650;   RDO:0002296;   RDO:0013703
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Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) JBrowse link 15 34,216,735 34,224,357 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15851
    Nutritional and Metabolic Diseases 4614
      disease of metabolism 4614
        mitochondrial metabolism disease 323
          pyruvate decarboxylase deficiency 16
            Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
Path 2
Term Annotations click to browse term
  disease 15851
    disease of anatomical entity 15243
      nervous system disease 10713
        central nervous system disease 8827
          brain disease 8119
            disease of mental health 5752
              developmental disorder of mental health 2910
                specific developmental disorder 2076
                  intellectual disability 1916
                    syndromic intellectual disability 676
                      Mental Retardation, X-Linked 657
                        pyruvate decarboxylase deficiency 16
                          Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.