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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 30
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Accession:DOID:0112098 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in NDUFB11 on chromosome Xp11.3. (DO)
Synonyms:exact_synonym: MC1DN30
 primary_id: OMIM:301021
For additional species annotation, visit the Alliance of Genome Resources.


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nuclear type mitochondrial complex I deficiency 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 ClinVar
OMIM
PMID:25741868 PMID:26741492 NCBI chr  X:1,787,266...1,789,524
Ensembl chr  X:1,787,266...1,789,524
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Nutritional and Metabolic Diseases 5513
      disease of metabolism 5513
        mitochondrial metabolism disease 388
          mitochondrial complex I deficiency 62
            nuclear type mitochondrial complex I deficiency 49
              nuclear type mitochondrial complex I deficiency 30 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          inherited metabolic disorder 2606
            mitochondrial metabolism disease 388
              mitochondrial complex I deficiency 62
                nuclear type mitochondrial complex I deficiency 49
                  nuclear type mitochondrial complex I deficiency 30 1
paths to the root