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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 Complex II Deficiency Nuclear Type 3
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Accession:DOID:9003007 term browser browse the term
Synonyms:exact_synonym: MC2DN3
 primary_id: OMIM:619167
For additional species annotation, visit the Alliance of Genome Resources.


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Mitochondrial Complex II Deficiency Nuclear Type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhd succinate dehydrogenase complex subunit D ISO OMIM NCBI chrNW_004955412:13,768,501...13,778,944 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12745
    Nutritional and Metabolic Diseases 4174
      disease of metabolism 4174
        mitochondrial metabolism disease 371
          mitochondrial complex II deficiency 4
            Mitochondrial Complex II Deficiency Nuclear Type 3 1
Path 2
Term Annotations click to browse term
  disease 12745
    Developmental Disease 9641
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8392
        genetic disease 7967
          inherited metabolic disorder 2245
            mitochondrial metabolism disease 371
              mitochondrial complex II deficiency 4
                Mitochondrial Complex II Deficiency Nuclear Type 3 1
paths to the root