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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 12
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Accession:DOID:0112099 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24. (DO)
Synonyms:exact_synonym: MC1DN12
 primary_id: MIM:301020


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nuclear type mitochondrial complex I deficiency 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 OMIM
ClinVar		 PMID:17262856 PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 More... NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Nutritional and Metabolic Diseases 8520
      disease of metabolism 8520
        mitochondrial metabolism disease 817
          mitochondrial complex I deficiency 70
            nuclear type mitochondrial complex I deficiency 53
              nuclear type mitochondrial complex I deficiency 12 1
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          inherited metabolic disorder 6605
            mitochondrial metabolism disease 817
              mitochondrial complex I deficiency 70
                nuclear type mitochondrial complex I deficiency 53
                  nuclear type mitochondrial complex I deficiency 12 1
paths to the root