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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:mitochondrial pyruvate carrier deficiency
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Accession:DOID:0080363 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. (DO)
Synonyms:exact_synonym: MPYCD
 primary_id: OMIM:614741
 alt_id: RDO:9000572
 xref: ORDO:447784
For additional species annotation, visit the Alliance of Genome Resources.


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mitochondrial pyruvate carrier deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency OMIM
ClinVar		 PMID:12649063 PMID:22628558 PMID:25741868 NCBI chr 1:52,437,745...52,449,369
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        mitochondrial metabolism disease 419
          mitochondrial pyruvate carrier deficiency 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                mitochondrial pyruvate carrier deficiency 1
paths to the root