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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 12
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Accession:DOID:0112099 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in NDUFA1 on chromosome Xq24. (DO)
Synonyms:exact_synonym: MC1DN12
 primary_id: OMIM:301020
For additional species annotation, visit the Alliance of Genome Resources.


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nuclear type mitochondrial complex I deficiency 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 ClinVar
OMIM
PMID:17262856 PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28794991 PMID:29353736 PMID:31288420 NCBI chr  X:123,803,109...123,806,760
Ensembl chr  X:124,513,269...124,516,705
Ensembl chr  X:124,513,269...124,516,705
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    Nutritional and Metabolic Diseases 5523
      disease of metabolism 5523
        mitochondrial metabolism disease 391
          mitochondrial complex I deficiency 63
            nuclear type mitochondrial complex I deficiency 50
              nuclear type mitochondrial complex I deficiency 12 1
Path 2
Term Annotations click to browse term
  disease 17147
    Developmental Disease 10919
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9449
        genetic disease 8952
          inherited metabolic disorder 2614
            mitochondrial metabolism disease 391
              mitochondrial complex I deficiency 63
                nuclear type mitochondrial complex I deficiency 50
                  nuclear type mitochondrial complex I deficiency 12 1
paths to the root