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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 24
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Accession:DOID:0112079 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 NDUFB9 gene on chromosome 8q24.13. (DO)
Synonyms:exact_synonym: MC1DN24
 primary_id: OMIM:618245


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nuclear type mitochondrial complex I deficiency 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTSS1 MTSS I-BAR domain containing 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 ClinVar NCBI chr 8:121,235,545...121,413,037
Ensembl chr 8:123,987,577...124,032,339 		JBrowse link
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 OMIM
ClinVar		 PMID:22200994 PMID:25741868 PMID:28492532 NCBI chr 8:121,223,857...121,234,743
Ensembl chr 8:123,975,910...123,986,781 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7184
      disease of metabolism 7184
        mitochondrial metabolism disease 808
          mitochondrial complex I deficiency 66
            nuclear type mitochondrial complex I deficiency 52
              nuclear type mitochondrial complex I deficiency 24 2
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          inherited metabolic disorder 5521
            mitochondrial metabolism disease 808
              mitochondrial complex I deficiency 66
                nuclear type mitochondrial complex I deficiency 52
                  nuclear type mitochondrial complex I deficiency 24 2
paths to the root