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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: MIM: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 IAGP ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy		 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010 		JBrowse link
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial IAGP
EXP		 ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy
ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial		 OMIM
ClinVar
CTD		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:24,094,171...24,104,125
Ensembl chr14:24,094,053...24,110,598 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    Nutritional and Metabolic Diseases 13678
      disease of metabolism 13678
        mitochondrial metabolism disease 1246
          pyruvate decarboxylase deficiency 72
            Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
Path 2
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      nervous system disease 53072
        central nervous system disease 38436
          brain disease 36139
            disease of mental health 29592
              developmental disorder of mental health 14911
                specific developmental disorder 9759
                  intellectual disability 7287
                    X-Linked Intellectual Developmental Disorders 1264
                      pyruvate decarboxylase deficiency 72
                        Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
paths to the root