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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 the COQ5 gene on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: COQ10D9
 primary_id: OMIM:619028


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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:25741868 PMID:29044765 NCBI chr12:41,316,922...41,333,855
Ensembl chr12:41,316,748...41,333,848 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        mitochondrial metabolism disease 812
          coenzyme Q10 deficiency disease 217
            primary coenzyme Q10 deficiency 9 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            movement disease 2584
              Dyskinesias 2197
                Ataxia 962
                  coenzyme Q10 deficiency disease 217
                    primary coenzyme Q10 deficiency 9 1
paths to the root