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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 8
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Accession:DOID:0070245 term browser browse the term
Definition:A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. (DO)
Synonyms:exact_synonym: COQ10D8;   coenzyme Q10 deficiency-8
 primary_id: OMIM:616733


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primary coenzyme Q10 deficiency 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ7 coenzyme Q7, hydroxylase IAGP
EXP		 ClinVar Annotator: match by term: Primary coenzyme Q10 deficiency 8
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26084283 PMID:28409910 PMID:28492532 PMID:30369941 More... NCBI chr16:19,067,614...19,083,097
Ensembl chr16:19,067,614...19,080,095 		JBrowse link
G COQ7-DT COQ7 divergent transcript IAGP ClinVar Annotator: match by term: Primary coenzyme Q10 deficiency 8 ClinVar PMID:25741868 PMID:28492532 PMID:36454683 PMID:37077559 PMID:37392700 NCBI chr16:19,062,754...19,067,691
Ensembl chr16:19,062,144...19,067,691 		JBrowse link
G LOC130058587 ATAC-STARR-seq lymphoblastoid silent region 7240 IAGP ClinVar Annotator: match by term: Primary coenzyme Q10 deficiency 8 ClinVar PMID:25741868 PMID:28492532 PMID:36454683 PMID:37077559 PMID:37392700 NCBI chr16:19,067,638...19,067,797 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    Pathological Conditions, Signs and Symptoms 21490
      Pathologic Processes 13190
        Muscle Weakness 395
          coenzyme Q10 deficiency disease 335
            primary coenzyme Q10 deficiency 8 3
Path 2
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      nervous system disease 26373
        central nervous system disease 23608
          brain disease 22047
            movement disease 3285
              Dyskinesias 2692
                Ataxia 1304
                  coenzyme Q10 deficiency disease 335
                    primary coenzyme Q10 deficiency 8 3
paths to the root