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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:primary coenzyme Q10 deficiency 9
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Accession:DOID:0112138 term browser browse the term
Definition:A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in COQ5 on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: COQ10D9
 primary_id: OMIM:619028
For additional species annotation, visit the Alliance of Genome Resources.


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primary coenzyme Q10 deficiency 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq5 coenzyme Q5, methyltransferase ISO ClinVar Annotator: match by term: COENZYME Q10 DEFICIENCY, PRIMARY, 9 OMIM
ClinVar
PMID:29044765 NCBI chr12:47,078,753...47,095,438
Ensembl chr12:47,078,753...47,095,438
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        mitochondrial metabolism disease 349
          coenzyme Q10 deficiency disease 27
            primary coenzyme Q10 deficiency 9 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            movement disease 1094
              Dyskinesias 797
                Ataxia 338
                  coenzyme Q10 deficiency disease 27
                    primary coenzyme Q10 deficiency 9 1
paths to the root