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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 5
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Accession:DOID:0070242 term browser browse the term
Definition:A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. (DO)
Synonyms:exact_synonym: COQ10D5;   COQ9-RELATED CONDITION;   ORDO:319678;   encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
 primary_id: OMIM:614654


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primary coenzyme Q10 deficiency 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ9 coenzyme Q9 ISO ClinVar Annotator: match by term: COQ9-related condition | ClinVar Annotator: match by term: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome OMIM
ClinVar		 PMID:16199547 PMID:19375058 PMID:20495179 PMID:20689595 PMID:22490322 More... NCBI chr16:37,723,452...37,737,327
Ensembl chr16:56,856,401...56,870,260 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12039
      Pathologic Processes 7439
        Muscle Weakness 276
          coenzyme Q10 deficiency disease 219
            primary coenzyme Q10 deficiency 5 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15262
      nervous system disease 13294
        central nervous system disease 11923
          brain disease 11205
            movement disease 2498
              Dyskinesias 2132
                Ataxia 933
                  coenzyme Q10 deficiency disease 219
                    primary coenzyme Q10 deficiency 5 1
paths to the root