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ONTOLOGY REPORT - ANNOTATIONS


Term:primary coenzyme Q10 deficiency 1
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Accession:DOID:0070238 term browser browse the term
Definition:A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ2 on chromosome 4q21.22-q21.23. (DO)
Synonyms:exact_synonym: COENZYME Q DEFICIENCY 1;   COQ10D1;   CoQ DEFICIENCY 1;   CoQ10 DEFICIENCY, PRIMARY, 1;   UBIQUINONE DEFICIENCY 1
 primary_id: OMIM:607426
 alt_id: DOID:9000525;   RDO:0009104
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primary coenzyme Q10 deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:8554872
G Coq2 coenzyme Q2, polyprenyltransferase JBrowse link 14 10,581,102 10,601,093 RGD:7240710
RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:11554173
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Pathological Conditions, Signs and Symptoms 8013
      Pathologic Processes 5074
        Muscle Weakness 71
          coenzyme Q10 deficiency disease 26
            primary coenzyme Q10 deficiency 1 3
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        central nervous system disease 8075
          brain disease 7543
            movement disease 999
              Dyskinesias 709
                Ataxia 300
                  coenzyme Q10 deficiency disease 26
                    primary coenzyme Q10 deficiency 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.