ONTOLOGY REPORT - ANNOTATIONS


Term:Phosphoenolpyruvate Carboxykinase Deficiency
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Accession:DOID:9003263 term browser browse the term
Synonyms:exact_synonym: PCK1 DEFICIENCY, CYTOSOLIC;   PEPCK DEFICIENCY, CYTOSOLIC;   PHOSPHOENOLPYRUVATE CARBOXYKINASE (GTP) DEFICIENCY;   Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic;   Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency;   Phosphoenolpyruvate carboxylase deficiency;   Phosphopyruvate carboxylase deficiency
 primary_id: MESH:C536654;   RDO:0002295
 alt_id: OMIM:261680
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Phosphoenolpyruvate Carboxykinase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pck1 phosphoenolpyruvate carboxykinase 1 JBrowse link 3 171,213,936 171,219,885 RGD:7240710
RGD:8554872
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

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  disease 14875
    disease of anatomical entity 14051
      endocrine system disease 4668
        liver disease 2270
          Phosphoenolpyruvate Carboxykinase Deficiency 3
            Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            carbohydrate metabolic disorder 302
              Phosphoenolpyruvate Carboxykinase Deficiency 3
                Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
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