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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 16
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Accession:DOID:0112096 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF5 on chromosome 20p12.1. (DO)
Synonyms:exact_synonym: MC1DN16
 primary_id: OMIM:618238
For additional species annotation, visit the Alliance of Genome Resources.


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nuclear type mitochondrial complex I deficiency 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 ClinVar
OMIM
PMID:18940309 PMID:19542079 PMID:21607760 PMID:25741868 PMID:28492532 NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        mitochondrial metabolism disease 349
          mitochondrial complex I deficiency 60
            nuclear type mitochondrial complex I deficiency 47
              nuclear type mitochondrial complex I deficiency 16 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          inherited metabolic disorder 2235
            mitochondrial metabolism disease 349
              mitochondrial complex I deficiency 60
                nuclear type mitochondrial complex I deficiency 47
                  nuclear type mitochondrial complex I deficiency 16 1
paths to the root