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ONTOLOGY REPORT - ANNOTATIONS


Term:progressive supranuclear palsy
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Accession:DOID:678 term browser browse the term
Definition:A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei. (From Adams et al., Principles of Neurology, 6th ed, pp1076-7)
Synonyms:exact_synonym: PSNP1;   PSP;   Progressive Supranuclear Ophthalmoplegia;   Progressive Supranuclear Palsies;   Richardson Syndrome;   Richardson's Syndrome;   Steele Richardson Olszewski Disease;   Steele Richardson Olszewski Syndrome;   Supranuclear Palsy, Progressive, 1
 primary_id: MESH:D013494
 alt_id: OMIM:601104;   RDO:0003033
 xref: GARD:7471;   NCI:C85028;   ORDO:683
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progressive supranuclear palsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 JBrowse link 4 98,648,513 98,709,695 RGD:11554173
G Map2k6 mitogen-activated protein kinase kinase 6 JBrowse link 10 98,707,160 98,823,054 RGD:7495833
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8158100
RGD:8158099
RGD:8158095
G Mobp myelin-associated oligodendrocyte basic protein JBrowse link 8 128,824,420 128,854,492 RGD:11554173
G Nat2 N-acetyltransferase 2 JBrowse link 16 23,960,709 23,991,570 RGD:8552652
G Ogg1 8-oxoguanine DNA glycosylase JBrowse link 4 145,282,828 145,289,367 RGD:8657142
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655859
G Srsf2 serine and arginine rich splicing factor 2 JBrowse link 10 105,792,779 105,795,986 RGD:11554173
G Stx6 syntaxin 6 JBrowse link 13 72,804,218 72,850,757 RGD:11554173
G Tardbp TAR DNA binding protein JBrowse link 5 165,432,089 165,442,232 RGD:5687185
G Tra2b transformer 2 beta homolog JBrowse link 11 82,373,828 82,392,208 RGD:11554173
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      nervous system disease 10203
        central nervous system disease 8080
          movement disease 999
            progressive supranuclear palsy 11
              Familial Progressive Supranuclear Palsy 0
              Progressive Supranuclear Palsy Atypical 1
              Supranuclear Palsy, Progressive, 2 0
              Supranuclear Palsy, Progressive, 3 0
              Tauopathy and Respiratory Failure 0
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      nervous system disease 10203
        peripheral nervous system disease 2112
          neuropathy 1934
            cranial nerve disease 360
              ocular motility disease 102
                ophthalmoplegia 45
                  progressive supranuclear palsy 11
                    Familial Progressive Supranuclear Palsy 0
                    Progressive Supranuclear Palsy Atypical 1
                    Supranuclear Palsy, Progressive, 2 0
                    Supranuclear Palsy, Progressive, 3 0
                    Tauopathy and Respiratory Failure 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.