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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;   PCK2-RELATED CONDITION;   PEPCK2 deficiency;   Phosphoenolpyruvate Carboxykinase 2 Deficiency
 narrow_synonym: PCK2-RELATED NEUROPATHY
 primary_id: MESH:C564890
 alt_id: OMIM:261650

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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: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936722:448,006...454,064
Ensembl chrNW_004936722:447,967...454,553 		JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936722:428,473...450,452
Ensembl chrNW_004936722:428,307...437,328 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6754
      disease of metabolism 6754
        mitochondrial metabolism disease 772
          pyruvate decarboxylase deficiency 53
            Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14121
      nervous system disease 12346
        central nervous system disease 11061
          brain disease 10384
            disease of mental health 7465
              developmental disorder of mental health 5074
                specific developmental disorder 4195
                  intellectual disability 4009
                    X-Linked Intellectual Developmental Disorders 745
                      pyruvate decarboxylase deficiency 53
                        Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
paths to the root