Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 9
go back to main search page
Accession:DOID:0112138 term browser browse the term
Definition:A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in COQ5 on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: COQ10D9
 primary_id: OMIM:619028
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
primary coenzyme Q10 deficiency 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq5 coenzyme Q5, methyltransferase ISO ClinVar Annotator: match by term: Coenzyme q10 deficiency, primary, 9 OMIM
ClinVar
PMID:29044765 NCBI chr12:41,316,922...41,333,855
Ensembl chr12:41,316,748...41,333,848
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        mitochondrial metabolism disease 419
          coenzyme Q10 deficiency disease 45
            primary coenzyme Q10 deficiency 9 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            movement disease 1690
              Dyskinesias 1344
                Ataxia 536
                  coenzyme Q10 deficiency disease 45
                    primary coenzyme Q10 deficiency 9 1
paths to the root