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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:pyruvate carboxylase deficiency disease
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Accession:DOID:3651 term browser browse the term
Definition:A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis. (DO)
Synonyms:exact_synonym: PC deficiency;   PC-RELATED CONDITION;   ataxia with lactic acidosis 2;   ataxia with lactic acidosis II;   deficiency of pyruvic carboxylase;   pyruvate carboxylase deficiency;   type II ataxia with lactic acidosis
 primary_id: MESH:D015324
 alt_id: MIM:266150
 xref: EFO:1001142;   NCI:C85040
For additional species annotation, visit the Alliance of Genome Resources.


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pyruvate carboxylase deficiency disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Pyruvate Carboxylase Deficiency Disease ClinVar PMID:21874000 PMID:23684012 PMID:25687217 PMID:25741868 PMID:26556299 More... NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952 		JBrowse link
G Pc pyruvate carboxylase ISO DNA:missense mutations:cds:p.A650T, p.M743I (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PC-related condition | ClinVar Annotator: match by term: Pyruvate carboxylase deficiency 		OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:9585002 PMID:9585612 PMID:12112657 PMID:16199547 More... RGD:737741 NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:211,228,731...211,329,940 		JBrowse link
Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: LEIGH SYNDROME DUE TO PYRUVATE CARBOXYLASE DEFICIENCY ClinVar PMID:21874000 PMID:23684012 PMID:25687217 PMID:25741868 PMID:26556299 More... NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952 		JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:21270786 PMID:25741868 PMID:27981572 PMID:28492532 NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:211,228,731...211,329,940 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Nutritional and Metabolic Diseases 4637
      disease of metabolism 4637
        mitochondrial metabolism disease 343
          pyruvate carboxylase deficiency disease 2
            Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            Metabolic Brain Diseases 443
              Metabolic Brain Diseases, Inborn 385
                pyruvate carboxylase deficiency disease 2
                  Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 2
paths to the root