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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 11
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Accession:DOID:0112089 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1. (DO)
Synonyms:exact_synonym: MC1DN11;   NDUFAF1-RELATED CONDITION
 primary_id: MIM:618234


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nuclear type mitochondrial complex I deficiency 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | ClinVar Annotator: match by term: NDUFAF1-related condition OMIM
ClinVar		 PMID:17557076 PMID:21931170 PMID:25741868 PMID:28492532 NCBI chr 3:106,639,025...106,650,549
Ensembl chr 3:106,639,851...106,650,212 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Nutritional and Metabolic Diseases 8542
      disease of metabolism 8542
        mitochondrial metabolism disease 820
          mitochondrial complex I deficiency 71
            nuclear type mitochondrial complex I deficiency 53
              nuclear type mitochondrial complex I deficiency 11 1
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        genetic disease 13376
          inherited metabolic disorder 6620
            mitochondrial metabolism disease 820
              mitochondrial complex I deficiency 71
                nuclear type mitochondrial complex I deficiency 53
                  nuclear type mitochondrial complex I deficiency 11 1
paths to the root