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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 33
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Accession:DOID:0112097 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFA6 on chromosome 22q13.2. (DO)
Synonyms:exact_synonym: MC1DN33
 primary_id: OMIM:618253
For additional species annotation, visit the Alliance of Genome Resources.



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nuclear type mitochondrial complex I deficiency 33 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30245030 NCBI chr 7:113,866,382...113,870,239
Ensembl chr 7:113,866,382...113,870,239
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        mitochondrial metabolism disease 442
          mitochondrial complex I deficiency 64
            nuclear type mitochondrial complex I deficiency 50
              nuclear type mitochondrial complex I deficiency 33 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          inherited metabolic disorder 4673
            mitochondrial metabolism disease 442
              mitochondrial complex I deficiency 64
                nuclear type mitochondrial complex I deficiency 50
                  nuclear type mitochondrial complex I deficiency 33 1
paths to the root