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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:mitochondrial complex III deficiency nuclear type 2
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Accession:DOID:0060351 term browser browse the term
Definition:A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. (DO)
Synonyms:exact_synonym: MC3DN2
 primary_id: OMIM:615157
For additional species annotation, visit the Alliance of Genome Resources.


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mitochondrial complex III deficiency nuclear type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncor1 nuclear receptor co-repressor 1 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 2 ClinVar NCBI chr10:48,629,121...48,772,890
Ensembl chr10:48,629,121...48,772,890
JBrowse link
G Ttc19 tetratricopeptide repeat domain 19 ISO ClinVar Annotator: match by OMIM:615157
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 2
OMIM
ClinVar
PMID:21278747 PMID:23532514 PMID:24368687 PMID:24397319 PMID:25741868 PMID:25887401 PMID:28492532 NCBI chr10:48,599,321...48,627,374
Ensembl chr10:48,599,321...48,627,374
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    Nutritional and Metabolic Diseases 5527
      disease of metabolism 5527
        mitochondrial metabolism disease 392
          mitochondrial complex III deficiency 13
            mitochondrial complex III deficiency nuclear type 2 2
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          inherited metabolic disorder 2615
            mitochondrial metabolism disease 392
              mitochondrial complex III deficiency 13
                mitochondrial complex III deficiency nuclear type 2 2
paths to the root