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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 3
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Accession:DOID:0070240 term browser browse the term
Definition:A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. (DO)
Synonyms:exact_synonym: COQ10D3;   PDSS2-RELATED CONDITION
 primary_id: OMIM:614652


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primary coenzyme Q10 deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdss2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 3 | ClinVar Annotator: match by term: PDSS2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17186472 PMID:17374725 PMID:17576681 PMID:19096106 More... NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13342
      Pathologic Processes 7990
        Muscle Weakness 281
          coenzyme Q10 deficiency disease 217
            primary coenzyme Q10 deficiency 3 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        central nervous system disease 12429
          brain disease 11667
            movement disease 2582
              Dyskinesias 2196
                Ataxia 962
                  coenzyme Q10 deficiency disease 217
                    primary coenzyme Q10 deficiency 3 1
paths to the root