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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
 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 (GTP) deficiency | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, cytosolic OMIM
ClinVar
PMID:1092127 PMID:24863970 PMID:25741868 PMID:28492532 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
JBrowse link
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 PMID:28492532 NCBI chr15:29,008,104...29,009,832
Ensembl chr15:29,008,104...29,009,832
JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      endocrine system disease 6262
        liver disease 2621
          Phosphoenolpyruvate Carboxykinase Deficiency 3
            Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            carbohydrate metabolic disorder 2561
              Phosphoenolpyruvate Carboxykinase Deficiency 3
                Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
paths to the root