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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 1
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Accession:DOID:9003055 term browser browse the term
Synonyms:exact_synonym: MC2DN1
 primary_id: OMIM:252011
For additional species annotation, visit the Alliance of Genome Resources.


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Mitochondrial Complex II Deficiency Nuclear Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1
OMIM
ClinVar
PMID:1492653 PMID:7550341 PMID:8967754 PMID:9536098 PMID:10746566 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 ISO ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:26642834 PMID:28492532 NCBI chr 1:85,576,207...85,577,156
Ensembl chr 1:85,576,041...85,577,366
Ensembl chr 1:85,576,041...85,577,366
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 ClinVar PMID:17634472 PMID:22972948 PMID:26642834 PMID:26925370 PMID:27159321 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 ClinVar PMID:24367056 PMID:28492532 NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Nutritional and Metabolic Diseases 5535
      disease of metabolism 5535
        mitochondrial metabolism disease 394
          mitochondrial complex II deficiency 4
            Mitochondrial Complex II Deficiency Nuclear Type 1 4
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          inherited metabolic disorder 2619
            mitochondrial metabolism disease 394
              mitochondrial complex II deficiency 4
                Mitochondrial Complex II Deficiency Nuclear Type 1 4
paths to the root