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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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary coenzyme Q10 deficiency 8		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26084283 PMID:28409910 PMID:28492532 PMID:30369941 More... NCBI chr 1:172,836,359...172,851,173
Ensembl chr 1:172,835,188...172,851,158 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Pathologic Processes 7982
        Muscle Weakness 281
          coenzyme Q10 deficiency disease 218
            primary coenzyme Q10 deficiency 8 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            movement disease 2576
              Dyskinesias 2190
                Ataxia 957
                  coenzyme Q10 deficiency disease 218
                    primary coenzyme Q10 deficiency 8 1
paths to the root