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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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Phosphoenolpyruvate Carboxykinase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, cytosolic
ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase (GTP) deficiency
OMIM
ClinVar
PMID:1092127, PMID:24863970, PMID:28492532 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
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Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial ClinVar PMID:24033266, PMID:25741868 NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921
JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial ClinVar
OMIM
PMID:24033266, PMID:25741868 NCBI chr15:34,216,735...34,224,357
Ensembl chr15:34,216,833...34,224,193
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      endocrine system disease 4991
        liver disease 2404
          Phosphoenolpyruvate Carboxykinase Deficiency 3
            Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          inherited metabolic disorder 2232
            carbohydrate metabolic disorder 389
              Phosphoenolpyruvate Carboxykinase Deficiency 3
                Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.