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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:Childhood Myocerebrohepatopathy Spectrum
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Accession:DOID:9002375 term browser browse the term
Synonyms:primary_id: MESH:C579990;   RDO:0015869
For additional species annotation, visit the Alliance of Genome Resources.


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Childhood Myocerebrohepatopathy Spectrum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Childhood myocerebrohepatopathy spectrum ClinVar PMID:12707443 PMID:16621917 PMID:19752458 PMID:20185557 PMID:21305355 PMID:21880868 PMID:22189570 PMID:23208208 PMID:24265579 PMID:25741868 PMID:28471437 PMID:28492532 PMID:30167885 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    Nutritional and Metabolic Diseases 5523
      disease of metabolism 5523
        mitochondrial metabolism disease 391
          Childhood Myocerebrohepatopathy Spectrum 1
Path 2
Term Annotations click to browse term
  disease 17147
    Developmental Disease 10919
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9449
        genetic disease 8952
          inherited metabolic disorder 2614
            mitochondrial metabolism disease 391
              Childhood Myocerebrohepatopathy Spectrum 1
paths to the root