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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 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;   ICD10CM:G23.1;   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 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr10:98,707,160...98,823,054
Ensembl chr10:98,706,960...98,823,287
JBrowse link
G Mapt microtubule-associated protein tau onset ISO ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601104
DNA:SNPs, haplotypes::
DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human)
OMIM
ClinVar
CTD
PMID:9629852, PMID:9641683, PMID:9736786, PMID:9789048, PMID:9811325, PMID:9824291, PMID:9836646, PMID:9973279, PMID:10076890, PMID:10100642, PMID:10100846, PMID:10214944, PMID:10218629, PMID:10219785, PMID:10318930, PMID:10359094, PMID:10360762, PMID:10443890, PMID:10514099, PMID:10561502, PMID:10627302, PMID:10767321, PMID:10821687, PMID:10865093, PMID:10932182, PMID:11013246, PMID:11081811, PMID:11102510, PMID:11115852, PMID:11255441, PMID:11402146, PMID:11598310, PMID:11738505, PMID:11756436, PMID:12325083, PMID:12473404, PMID:12565146, PMID:12756133, PMID:12876142, PMID:12975285, PMID:14595660, PMID:15372253, PMID:15489396, PMID:15904919, PMID:16157753, PMID:16571759, PMID:16818492, PMID:17950702, PMID:18357425, PMID:18803694, PMID:18992292, PMID:19304664, PMID:19458322, PMID:19786698, PMID:20130190, PMID:20561037, PMID:21492964, PMID:21555888, PMID:21685912, PMID:21849646, PMID:22022446, PMID:22127750, PMID:22723997, PMID:23047372, PMID:23659495, PMID:24150109, PMID:24218087, PMID:25004446, PMID:25151619, PMID:25319522, PMID:25402454, PMID:25592136, PMID:25741868, PMID:26220942, PMID:26269332, PMID:26467025, PMID:26519432, PMID:27439681, PMID:28492532, PMID:15792962, PMID:16839689, PMID:19879020 RGD:8158100, RGD:8158099, RGD:8158095 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
JBrowse link
G Nat2 N-acetyltransferase 2 ISO RGD PMID:22424094 RGD:8552652 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pontine nucleus, neuron RGD PMID:15841414 RGD:8657142 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:brain (human) RGD PMID:11879807 RGD:8655859 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr10:105,792,779...105,795,986
Ensembl chr10:105,792,779...105,795,958
JBrowse link
G Stx6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr13:72,804,218...72,850,757
Ensembl chr13:72,804,218...72,852,967
JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20512649 RGD:5687185 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tra2b transformer 2 beta homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr11:82,373,828...82,392,208
Ensembl chr11:82,373,870...82,392,083
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 OMIM NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          movement disease 1159
            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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            cranial nerve disease 474
              ocular motility disease 174
                ophthalmoplegia 63
                  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
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.