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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:Paresis
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Accession:DOID:9002079 term browser browse the term
Definition:A general term referring to a mild to moderate degree of muscular weakness, occasionally used as a synonym for PARALYSIS (severe or complete loss of motor function). In the older literature, paresis often referred specifically to paretic neurosyphilis (see NEUROSYPHILIS). 'General paresis' and 'general paralysis' may still carry that connotation. Bilateral lower extremity paresis is referred to as PARAPARESIS.
Synonyms:exact_synonym: Brachial Pareses;   Brachial Paresis;   Crural Pareses;   Crural Paresis;   Hemipareses;   Hemiparesis;   Lower Extremity Pareses;   Lower Extremity Paresis;   Monopareses;   Monoparesis;   Muscle Pareses;   Muscle Paresis;   Muscular Pareses;   Muscular Paresis;   Pareses;   Upper Extremity Pareses;   Upper Extremity Paresis
 primary_id: MESH:D010291;   RDO:0006295
For additional species annotation, visit the Alliance of Genome Resources.


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Paresis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Hemiparesis ClinVar PMID:17617515, PMID:30311386 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Hemiparesis ClinVar PMID:30311386 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2249680 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Hemiparesis ClinVar PMID:25558065 NCBI chr17:90,553,161...90,627,133
Ensembl chr17:90,553,394...90,627,101
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:12690208 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Hemiparesis ClinVar PMID:30311386 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
Paraparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: Paraparesis ClinVar PMID:30311386 NCBI chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Paraparesis ClinVar PMID:25741868 NCBI chr 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP associated with Lathyrism RGD PMID:23068093 RGD:10766441 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
Spastic Paraparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:1537368, PMID:6243664, PMID:11159947, PMID:12752575, PMID:16098009, PMID:18628786, PMID:25741868, PMID:26622478, PMID:30311386 NCBI chr 7:143,937,198...143,956,668
Ensembl chr 7:143,937,199...143,956,668
JBrowse link
G Adgrb2 adhesion G protein-coupled receptor B2 ISO ClinVar Annotator: match by term: Progressive spastic paraparesis ClinVar PMID:28891236 NCBI chr 5:148,168,530...148,231,587
Ensembl chr 5:148,193,710...148,231,587
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:18500496, PMID:18853458, PMID:21107874, PMID:21623771, PMID:22552817, PMID:24731568, PMID:25008398, PMID:26543653, PMID:28492532, PMID:30311386 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:10655056, PMID:15453866, PMID:15459973, PMID:18294254, PMID:19273793, PMID:19718767, PMID:21217109, PMID:23039133, PMID:23591405, PMID:23989059, PMID:24474277, PMID:25079116, PMID:25097241, PMID:25703721, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr 8:64,797,518...64,801,587
Ensembl chr 8:64,797,518...64,800,467
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:25741868 NCBI chr 4:49,941,046...50,140,764
Ensembl chr 4:49,941,304...50,140,762
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:30311386 NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:10610178, PMID:11309678, PMID:12161613, PMID:15716377, PMID:16009769, PMID:16055926, PMID:16682546, PMID:17594340, PMID:17957230, PMID:18701882, PMID:19438933, PMID:20562464, PMID:20718791, PMID:25658484, PMID:25741868, PMID:26208798, PMID:27334366, PMID:28492532 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:18067136, PMID:18079167, PMID:18361476, PMID:18586399, PMID:19105190, PMID:23121729, PMID:24482476, PMID:24833714, PMID:26374131, PMID:26467025, PMID:27071356, PMID:28492532, PMID:30311386, PMID:32214227 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23176824 NCBI chr 6:135,304,536...135,405,865
Ensembl chr 6:135,313,008...135,402,814
JBrowse link
tropical spastic paraparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased processing:plasma RGD PMID:7561187 RGD:11040775 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA:decreased expression: T cell RGD PMID:20945034 RGD:38549361 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO mRNA:decreased expression: T cell RGD PMID:28101786, PMID:20945034 RGD:38456004, RGD:38549361 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO RGD PMID:11984596 RGD:10045967 NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
JBrowse link
G Klre1 killer cell lectin-like receptor, family E, member 1 susceptibility ISO DNA:SNPs:5'utr: (rs12821887,rs12819494) (human) RGD PMID:22170554 RGD:39018559 NCBI chr 4:163,346,684...163,355,050
Ensembl chr 4:163,349,125...163,354,976
JBrowse link
G Klrk1 killer cell lectin like receptor K1 susceptibility ISO DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human) RGD PMID:22170554 RGD:39018559 NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO associated with Sjogren's Syndrome RGD PMID:10464559 RGD:8657078 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO RGD PMID:25729550 RGD:36174012 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 disease_progression ISO mRNA:decreased expression: T cell RGD PMID:28101786, PMID:20945034 RGD:38456004, RGD:38549361 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISS OMIM:159580 MouseDO NCBI chr17:54,656,627...54,714,920
Ensembl chr17:54,658,463...54,714,914
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Pathological Conditions, Signs and Symptoms 8735
      Signs and Symptoms 5235
        Neurologic Manifestations 4188
          Paresis 32
            Encephalopathy, Spastic Tetraparesis, and Hypogonadism 0
            Hhhh Syndrome 0
            Paraparesis + 22
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.