ONTOLOGY REPORT - ANNOTATIONS


Term:primary coenzyme Q10 deficiency 6
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Accession:DOID:0070243 term browser browse the term
Definition:A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ6 on chromosome 14q24.3. (DO)
Synonyms:exact_synonym: COQ10D6
 primary_id: OMIM:614650
 alt_id: DOID:9000643;   RDO:9000241
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primary coenzyme Q10 deficiency 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq6 coenzyme Q6 monooxygenase JBrowse link 6 108,076,393 108,087,782 RGD:7240710
RGD:8554872
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 JBrowse link 6 108,087,677 108,123,811 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    Pathological Conditions, Signs and Symptoms 7740
      Pathologic Processes 4923
        Muscle Weakness 79
          coenzyme Q10 deficiency disease 28
            primary coenzyme Q10 deficiency 6 2
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        central nervous system disease 6945
          brain disease 6451
            movement disease 1005
              Dyskinesias 717
                Ataxia 307
                  coenzyme Q10 deficiency disease 28
                    primary coenzyme Q10 deficiency 6 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.