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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 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Hemiparesis ClinVar PMID:30311386 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2249680 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Hemiparesis ClinVar PMID:25558065 NCBI chr17:86,085,046...86,158,277
Ensembl chr17:86,085,077...86,158,267
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:12690208 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Far1 fatty acyl CoA reductase 1 ISO ClinVar Annotator: match by term: CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY ClinVar
OMIM
PMID:33239752 NCBI chr 1:167,644,622...167,705,868
Ensembl chr 1:167,644,677...167,705,730
JBrowse link
Paraparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Paraparesis ClinVar PMID:25741868 NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP associated with Lathyrism RGD PMID:23068093 RGD:10766441 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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:11159947 PMID:12752575 PMID:25741868 NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961
JBrowse link
G Adgrb2 adhesion G protein-coupled receptor B2 ISO ClinVar Annotator: match by term: Progressive spastic paraparesis ClinVar PMID:28891236 NCBI chr 5:142,299,190...142,362,540
Ensembl chr 5:142,331,329...142,362,540
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:25741868 NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:10610178 PMID:11309678 PMID:12161613 PMID:15716377 PMID:16009769 More... NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23176824 NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974
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 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA:decreased expression: T cell RGD PMID:20945034 RGD:38549361 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO RGD PMID:11984596 RGD:10045967 NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
JBrowse link
G Ifnl1 interferon, lambda 1 ISO associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:29990995 RGD:126848769 NCBI chr 1:83,798,651...83,800,297 JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:28378248 RGD:127285561 NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G Il27 interleukin 27 ISO associated with HTLV-I Infections;mRNA:decreased expression:blood (human) RGD PMID:24041428 RGD:126790519 NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO associated with Sjogren's Syndrome RGD PMID:10464559 RGD:8657078 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 susceptibility ISO DNA:SNP:5'utr: (rs3138045) (human) RGD PMID:22170554 RGD:39018559 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO RGD PMID:25729550 RGD:36174012 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISS OMIM:159580 MouseDO NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    Pathological Conditions, Signs and Symptoms 10273
      Signs and Symptoms 6528
        Neurologic Manifestations 5477
          Paresis 28
            Encephalopathy, Spastic Tetraparesis, and Hypogonadism 0
            Hhhh Syndrome 0
            Paraparesis + 21
paths to the root