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ONTOLOGY REPORT - ANNOTATIONS


Term:sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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Accession:DOID:0111276 term browser browse the term
Definition:A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. (DO)
Synonyms:exact_synonym: EPM5;   Epilepsy, Progressive Myoclonic 5;   SANDO;   autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions
 narrow_synonym: EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY;   SCAE
 primary_id: MESH:C537583
 alt_id: OMIA:001467;   OMIM:607459;   RDO:0003449;   RDO:9000291
 xref: ORDO:70595
For additional species annotation, visit the Alliance of Genome Resources.


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sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8694285
RGD:8694282
G Prickle2 prickle planar cell polarity protein 2 JBrowse link 4 124,238,167 124,584,176 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mitochondrial metabolism disease 307
          sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 3
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            disease of mental health 5514
              developmental disorder of mental health 2709
                specific developmental disorder 1880
                  communication disorder 212
                    language disorder 136
                      speech disorder 49
                        articulation disorder 20
                          Dysarthria 16
                            sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.