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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


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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 OMIM
ClinVar		 PMID:1492653 PMID:2674654 PMID:7550341 PMID:8967754 PMID:9536098 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:26749241 PMID:28492532 PMID:29517769 More... 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:25741868 PMID:26642834 PMID:26925370 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 Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 ClinVar PMID:8981955 PMID:10323245 PMID:10657297 PMID:11156372 PMID:11343322 More... NCBI chr 8:50,944,702...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 18970
    Nutritional and Metabolic Diseases 8266
      disease of metabolism 8266
        mitochondrial metabolism disease 815
          mitochondrial complex II deficiency 4
            Mitochondrial Complex II Deficiency Nuclear Type 1 4
Path 2
Term Annotations click to browse term
  disease 18970
    Developmental Disease 14384
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13389
        genetic disease 13005
          inherited metabolic disorder 6279
            mitochondrial metabolism disease 815
              mitochondrial complex II deficiency 4
                Mitochondrial Complex II Deficiency Nuclear Type 1 4
paths to the root