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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 7
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Accession:DOID:0112092 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 NDUFV2 gene on chromosome 18p11.22. (DO)
Synonyms:exact_synonym: MC1DN7
 primary_id: OMIM:618229


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nuclear type mitochondrial complex I deficiency 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 OMIM
ClinVar		 PMID:9570948 PMID:25741868 PMID:26008862 PMID:28492532 PMID:30369941 NCBI chr 9:105,690,454...105,710,669
Ensembl chr 9:105,690,455...105,710,713 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        mitochondrial metabolism disease 812
          mitochondrial complex I deficiency 71
            nuclear type mitochondrial complex I deficiency 54
              nuclear type mitochondrial complex I deficiency 7 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            mitochondrial metabolism disease 812
              mitochondrial complex I deficiency 71
                nuclear type mitochondrial complex I deficiency 54
                  nuclear type mitochondrial complex I deficiency 7 1
paths to the root