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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: PSP;   Progressive Supranuclear Ophthalmoplegia;   Richardson Syndrome;   Richardson's Syndrome;   Steele Richardson Olszewski Disease;   Steele Richardson Olszewski Syndrome;   progressive supranuclear palsies
 xref: EFO:0002512;   GARD:7471;   ICD10CM:G23.1;   MESH:D013494;   MIM:PS601104;   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 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911 		JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293 		JBrowse link
G Mapt microtubule-associated protein tau onset ISO DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human)
ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia
DNA:SNPs, haplotypes::
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... RGD:8158095, RGD:8158099, RGD:8158100 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563 		JBrowse link
G Nat2 N-acetyltransferase 2 ISO RGD PMID:22424094 RGD:8552652 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pontine nucleus, neuron RGD PMID:15841414 RGD:8657142 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:brain (human) RGD PMID:11879807 RGD:8655859 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338 		JBrowse link
G Stx6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576 		JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20512649 RGD:5687185 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tra2b transformer 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr11:78,788,880...78,807,252
Ensembl chr11:78,788,884...78,807,249 		JBrowse link
Progressive Supranuclear Palsy 1 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: Supranuclear palsy, progressive, 1 ClinVar
OMIM		 PMID:2273997 PMID:8673924 PMID:9382467 PMID:9629852 PMID:9641683 More... NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atypical PSP | ClinVar Annotator: match by term: Parkinson-dementia syndrome | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1, atypical		 CTD
ClinVar
OMIM		 PMID:2273997 PMID:7783864 PMID:7936288 PMID:8673924 PMID:8940276 More... NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      eye disease 3723
        ocular motility disease 258
          ophthalmoplegia 81
            progressive supranuclear palsy 11
              Familial Progressive Supranuclear Palsy 0
              Progressive Supranuclear Palsy 1 1
              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 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Neurologic Manifestations 10449
          sensory system disease 7376
            eye disease 3723
              ocular motility disease 258
                ophthalmoplegia 81
                  progressive supranuclear palsy 11
                    Familial Progressive Supranuclear Palsy 0
                    Progressive Supranuclear Palsy 1 1
                    Progressive Supranuclear Palsy 2 0
                    Progressive Supranuclear Palsy 3 0
                    Progressive Supranuclear Palsy Atypical 1
                    Tauopathy and Respiratory Failure 0
paths to the root