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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 23
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Accession:DOID:0112087 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA12 on chromosome 12q22. (DO)
Synonyms:exact_synonym: MC1DN23
 primary_id: OMIM:618244
For additional species annotation, visit the Alliance of Genome Resources.



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nuclear type mitochondrial complex I deficiency 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 OMIM
ClinVar
PMID:21617257 PMID:25741868 PMID:33715266 PMID:35141356 NCBI chr 7:28,771,330...28,798,316
Ensembl chr 7:28,771,330...28,798,315
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        mitochondrial metabolism disease 442
          mitochondrial complex I deficiency 64
            nuclear type mitochondrial complex I deficiency 50
              nuclear type mitochondrial complex I deficiency 23 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            mitochondrial metabolism disease 442
              mitochondrial complex I deficiency 64
                nuclear type mitochondrial complex I deficiency 50
                  nuclear type mitochondrial complex I deficiency 23 1
paths to the root