ONTOLOGY REPORT - ANNOTATIONS


Term:primary coenzyme Q10 deficiency 4
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Accession:DOID:0070241 term browser browse the term
Definition:A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of ADCK3 on chromosome 1q42.13. (DO)
Synonyms:exact_synonym: Autosomal Recessive Spinocerebellar Ataxia 9;   COQ10D4;   Cerebellar Ataxia, Autosomal Recessive, Type 2;   SCAR9
 primary_id: MESH:C567436
 alt_id: DOID:9007226;   OMIM:612016;   RDO:0015504
 xref: GARD:10294;   ORDO:139485
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primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc42bpa CDC42 binding protein kinase alpha JBrowse link 13 98,231,326 98,447,762 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:7240710
RGD:8554872

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Path 1
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  disease 14920
    Pathological Conditions, Signs and Symptoms 7743
      Pathologic Processes 4924
        Muscle Weakness 78
          coenzyme Q10 deficiency disease 28
            primary coenzyme Q10 deficiency 4 2
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          brain disease 6454
            movement disease 1006
              Dyskinesias 718
                Ataxia 308
                  Spinocerebellar Ataxias 206
                    cerebellar ataxia 178
                      autosomal recessive cerebellar ataxia 69
                        primary coenzyme Q10 deficiency 4 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.