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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 37
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Accession:DOID:9000429 term browser browse the term
Synonyms:exact_synonym: MC1DN37
 primary_id: OMIM:619272


show annotations for term's descendants           Sort by:
Nuclear Type Mitochondrial Complex I Deficiency 37 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa8 NADH:ubiquinone oxidoreductase subunit A8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 OMIM
ClinVar		 PMID:25741868 PMID:32385911 PMID:33153867 NCBI chr 3:19,386,062...19,402,090
Ensembl chr 3:19,386,065...19,402,071 		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 37 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          inherited metabolic disorder 6257
            mitochondrial metabolism disease 812
              mitochondrial complex I deficiency 71
                nuclear type mitochondrial complex I deficiency 54
                  Nuclear Type Mitochondrial Complex I Deficiency 37 1
paths to the root