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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 2
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Accession:DOID:0070239 term browser browse the term
Definition:A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. (DO)
Synonyms:exact_synonym: COQ10D2;   deafness-encephaloneuropathy-obesity-valvulopathy syndrome;   hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
 primary_id: MIM:614651
 xref: ORDO:254898


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primary coenzyme Q10 deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi1 abl-interactor 1 ISO ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome ClinVar PMID:25741868 NCBI chr17:85,098,837...85,179,829
Ensembl chr17:85,098,550...85,179,792 		JBrowse link
G Pdss1 decaprenyl diphosphate synthase subunit 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 2 | ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome OMIM
ClinVar		 PMID:17332895 PMID:22494076 PMID:25264263 PMID:25741868 PMID:28492532 More... NCBI chr17:85,059,953...85,098,739
Ensembl chr17:85,060,106...85,098,730 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Pathological Conditions, Signs and Symptoms 13607
      Pathologic Processes 8259
        Muscle Weakness 283
          coenzyme Q10 deficiency disease 217
            primary coenzyme Q10 deficiency 2 2
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            movement disease 2627
              Dyskinesias 2229
                Ataxia 953
                  coenzyme Q10 deficiency disease 217
                    primary coenzyme Q10 deficiency 2 2
paths to the root