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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 18
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Accession:DOID:0112070 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFAF3 on chromosome 2p21.31. (DO)
Synonyms:exact_synonym: MC1DN18
 primary_id: OMIM:618240
For additional species annotation, visit the Alliance of Genome Resources.



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nuclear type mitochondrial complex I deficiency 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 OMIM
ClinVar
PMID:19463981 PMID:24033266 PMID:25741868 PMID:27986404 NCBI chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        mitochondrial metabolism disease 419
          mitochondrial complex I deficiency 63
            nuclear type mitochondrial complex I deficiency 49
              nuclear type mitochondrial complex I deficiency 18 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          inherited metabolic disorder 4644
            mitochondrial metabolism disease 419
              mitochondrial complex I deficiency 63
                nuclear type mitochondrial complex I deficiency 49
                  nuclear type mitochondrial complex I deficiency 18 1
paths to the root