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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 2
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Accession:DOID:9008405 term browser browse the term
Synonyms:exact_synonym: MC2DN2
 primary_id: OMIM:619166
For additional species annotation, visit the Alliance of Genome Resources.


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Mitochondrial Complex II Deficiency Nuclear Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 OMIM
ClinVar
PMID:12112045 PMID:16737791 PMID:19465911 PMID:22995659 NCBI chr 1:85,576,207...85,577,156 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    Nutritional and Metabolic Diseases 5532
      disease of metabolism 5532
        mitochondrial metabolism disease 392
          mitochondrial complex II deficiency 4
            Mitochondrial Complex II Deficiency Nuclear Type 2 1
Path 2
Term Annotations click to browse term
  disease 17160
    Developmental Disease 10925
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        genetic disease 8960
          inherited metabolic disorder 2622
            mitochondrial metabolism disease 392
              mitochondrial complex II deficiency 4
                Mitochondrial Complex II Deficiency Nuclear Type 2 1
paths to the root