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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:progressive supranuclear palsy
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Accession:DOID:678 term browser browse the term
Definition:A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. (DO)
Synonyms:exact_synonym: PSNP1;   PSP;   Progressive Supranuclear Ophthalmoplegia;   Richardson Syndrome;   Richardson's Syndrome;   Steele Richardson Olszewski Disease;   Steele Richardson Olszewski Syndrome;   progressive supranuclear palsies;   progressive supranuclear palsy 1
 primary_id: MESH:D013494
 alt_id: OMIM:601104
 xref: EFO:0002512;   GARD:7471;   ICD10CM:G23.1;   MONDO:0019037;   NCI:C85028;   ORDO:683
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
progressive supranuclear palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 3:57,423,894...57,506,247
Ensembl chr 3:57,423,943...57,506,245 		JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr12:10,891,445...11,018,617
Ensembl chr12:10,894,966...11,018,641 		JBrowse link
G MAPT microtubule associated protein tau onset ISO ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1 RGD
OMIM
ClinVar		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... RGD:8158099 NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,373 		JBrowse link
G MOBP myelin associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr13:24,138,078...24,186,838 JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pontine nucleus, neuron RGD PMID:15841414 RGD:8657142 NCBI chr13:66,038,669...66,045,478 JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:increased activity:brain (human) RGD PMID:11879807 RGD:8655859 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr12:4,800,578...4,803,767
Ensembl chr12:4,800,624...4,801,675 		JBrowse link
G STX6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 9:122,533,737...122,580,631
Ensembl chr 9:122,529,727...122,580,608 		JBrowse link
G TARDBP TAR DNA binding protein ISO RGD PMID:20512649 RGD:5687185 NCBI chr 6:71,213,584...71,227,707
Ensembl chr 6:71,213,860...71,227,704 		JBrowse link
G TRA2B transformer 2 beta homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr13:123,760,008...123,780,919
Ensembl chr13:123,754,864...123,780,920 		JBrowse link
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPT microtubule associated protein tau ISO ClinVar Annotator: match by term: Atypical PSP | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1, atypical ClinVar
OMIM		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,373 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    sensory system disease 6506
      eye disease 3323
        ocular motility disease 237
          ophthalmoplegia 80
            progressive supranuclear palsy 10
              Familial Progressive Supranuclear Palsy 0
              Progressive Supranuclear Palsy 2 0
              Progressive Supranuclear Palsy 3 0
              Progressive Supranuclear Palsy Atypical 1
              Tauopathy and Respiratory Failure 0
Path 2
Term Annotations click to browse term
  disease 17415
    Pathological Conditions, Signs and Symptoms 11801
      Signs and Symptoms 9739
        Neurologic Manifestations 9419
          sensory system disease 6506
            eye disease 3323
              ocular motility disease 237
                ophthalmoplegia 80
                  progressive supranuclear palsy 10
                    Familial Progressive Supranuclear Palsy 0
                    Progressive Supranuclear Palsy 2 0
                    Progressive Supranuclear Palsy 3 0
                    Progressive Supranuclear Palsy Atypical 1
                    Tauopathy and Respiratory Failure 0
paths to the root