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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, Cytosolic
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Accession:DOID:9007493 term browser browse the term
Synonyms:exact_synonym: PCK1 DEFICIENCY, CYTOSOLIC;   PCK1-RELATED CONDITION;   PCKDC;   PEPCK DEFICIENCY, CYTOSOLIC;   Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
 primary_id: MIM:261680


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Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 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: PCK1-related condition | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, cytosolic OMIM
ClinVar		 PMID:1092127 PMID:24863970 PMID:25741868 PMID:26971250 PMID:28216384 More... NCBI chr 3:182,348,572...182,354,521
Ensembl chr 3:182,348,572...182,354,561 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    disease of anatomical entity 18461
      endocrine system disease 7007
        liver disease 2963
          Phosphoenolpyruvate Carboxykinase Deficiency 3
            Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 1
Path 2
Term Annotations click to browse term
  disease 19154
    Developmental Disease 14697
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13758
        genetic disease 13375
          inherited metabolic disorder 6644
            carbohydrate metabolic disorder 3437
              Phosphoenolpyruvate Carboxykinase Deficiency 3
                Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 1
paths to the root