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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 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 OMIM
ClinVar
PMID:24033266 PMID:24367056 PMID:26008905 PMID:28492532 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20257
    Nutritional and Metabolic Diseases 6024
      disease of metabolism 6024
        mitochondrial metabolism disease 484
          mitochondrial complex II deficiency 4
            Mitochondrial Complex II Deficiency Nuclear Type 3 1
Path 2
Term Annotations click to browse term
  disease 20257
    Developmental Disease 13770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11280
        genetic disease 10739
          inherited metabolic disorder 2961
            mitochondrial metabolism disease 484
              mitochondrial complex II deficiency 4
                Mitochondrial Complex II Deficiency Nuclear Type 3 1
paths to the root