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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:nuclear type mitochondrial complex I deficiency 2
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Accession:DOID:0112083 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2. (DO)
Synonyms:exact_synonym: MC1DN2
 primary_id: OMIM:618222

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nuclear type mitochondrial complex I deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 OMIM
ClinVar		 PMID:9837812 PMID:15159508 PMID:20818383 PMID:22499348 PMID:23430795 More... NCBI chrNW_004936599:2,081,493...2,085,635
Ensembl chrNW_004936599:2,081,079...2,084,730 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6783
      disease of metabolism 6783
        mitochondrial metabolism disease 772
          mitochondrial complex I deficiency 67
            nuclear type mitochondrial complex I deficiency 53
              nuclear type mitochondrial complex I deficiency 2 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          inherited metabolic disorder 5214
            mitochondrial metabolism disease 772
              mitochondrial complex I deficiency 67
                nuclear type mitochondrial complex I deficiency 53
                  nuclear type mitochondrial complex I deficiency 2 1
paths to the root