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


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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
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        mitochondrial metabolism disease 339
          pyruvate decarboxylase deficiency 17
            Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    syndromic intellectual disability 684
                      Mental Retardation, X-Linked 661
                        pyruvate decarboxylase deficiency 17
                          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.