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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 14
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Accession:DOID:0112094 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 NDUFA11 gene on chromosome 19p13.3. (DO)
Synonyms:exact_synonym: MC1DN14
 primary_id: OMIM:618236

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nuclear type mitochondrial complex I deficiency 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18306244 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936588:3,383,674...3,389,862
Ensembl chrNW_004936588:3,383,509...3,390,087 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6783
      disease of metabolism 6783
        mitochondrial metabolism disease 772
          mitochondrial complex I deficiency 67
            nuclear type mitochondrial complex I deficiency 53
              nuclear type mitochondrial complex I deficiency 14 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          inherited metabolic disorder 5214
            mitochondrial metabolism disease 772
              mitochondrial complex I deficiency 67
                nuclear type mitochondrial complex I deficiency 53
                  nuclear type mitochondrial complex I deficiency 14 1
paths to the root