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ONTOLOGY REPORT - ANNOTATIONS


Term:primary coenzyme Q10 deficiency 2
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Accession:DOID:0070239 term browser browse the term
Definition:A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of PDSS1 on chromosome 10p12.1. (DO)
Synonyms:exact_synonym: COQ10D2;   deafness-encephaloneuropathy-obesity-valvulopathy syndrome;   hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
 primary_id: OMIM:614651
 alt_id: RDO:9000238
 xref: ORDO:254898
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primary coenzyme Q10 deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdss1 decaprenyl diphosphate synthase subunit 1 JBrowse link 17 90,033,432 90,072,506 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Pathological Conditions, Signs and Symptoms 8063
      Pathologic Processes 5116
        Muscle Weakness 71
          coenzyme Q10 deficiency disease 26
            primary coenzyme Q10 deficiency 2 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        central nervous system disease 8117
          brain disease 7586
            movement disease 1008
              Dyskinesias 718
                Ataxia 307
                  coenzyme Q10 deficiency disease 26
                    primary coenzyme Q10 deficiency 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.