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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:Paraparesis
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Accession:DOID:9008173 term browser browse the term
Definition:Mild to moderate loss of bilateral lower extremity motor function, which may be a manifestation of SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; MUSCULAR DISEASES; INTRACRANIAL HYPERTENSION; parasagittal brain lesions; and other conditions.
Synonyms:exact_synonym: Cerebral Paraparesis;   Chronic Progressive Paraparesis;   Hypotonic Paraparesis;   Parapareses;   Spinal Paraparesis
 xref: MESH:D020335


show annotations for term's descendants           Sort by:
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 3:31,723,113...31,966,061
Ensembl chr 3:31,723,500...31,966,199 		JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO associated with Lathyrism RGD PMID:23068093 RGD:10766441 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		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 PARAPARESIS, AND SPEECH DELAY | ClinVar Annotator: match by term: FAR1-related condition | ClinVar Annotator: match by term: FAR1-related neurodevelopmental disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33239752 NCBI chr21:36,519,710...36,587,002
Ensembl chr21:36,520,968...36,623,388 		JBrowse link
Spastic Paraparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRB2 adhesion G protein-coupled receptor B2 ISO ClinVar Annotator: match by term: Progressive spastic paraparesis ClinVar PMID:28891236 NCBI chr 2:69,353,425...69,389,256
Ensembl chr 2:69,353,413...69,389,225 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:28492532 NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:25741868 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029 		JBrowse link
G PTPRZ1 protein tyrosine phosphatase receptor type Z1 ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:25741868 NCBI chr14:59,769,553...59,944,111
Ensembl chr14:59,827,650...59,943,315 		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 chr17:25,393,169...25,447,686
Ensembl chr17:25,393,422...25,446,539 		JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23176824 NCBI chr 8:70,332,934...70,435,558
Ensembl chr 8:70,344,063...70,434,218 		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 chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO mRNA:decreased expression: T cell RGD PMID:20945034 RGD:38549361 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity ISO protein:increased expression:plasma (human) RGD PMID:26800845 RGD:39939014 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility ISO RGD PMID:25729550 RGD:36174012 NCBI chr12:2,305,307...2,307,711 JBrowse link
G FOXP3 forkhead box P3 disease_progression ISO mRNA:decreased expression: T cell RGD PMID:20945034 PMID:28101786 RGD:38456004 RGD:38549361 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO RGD PMID:11984596 RGD:10045967 NCBI chr27:1,013,459...1,020,083
Ensembl chr27:1,015,868...1,019,891 		JBrowse link
G IL21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:28378248 RGD:127285561 NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266 		JBrowse link
G IL27 interleukin 27 ISO associated with HTLV-I Infections;mRNA:decreased expression:blood (human) RGD PMID:24041428 RGD:126790519 NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635 		JBrowse link
G IL29L interleukin 29-like ISO associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:29990995 RGD:126848769 NCBI chr24:36,440,445...36,441,017
Ensembl chr24:36,440,445...36,441,017 		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 chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO associated with Sjogren's Syndrome RGD PMID:10464559 RGD:8657078 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 susceptibility ISO DNA:SNP:5'utr: (rs3138045) (human) RGD PMID:22170554 RGD:39018559 NCBI chr32:23,948,598...24,040,704
Ensembl chr32:23,942,954...24,040,703 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 disease_progression ISO mRNA:decreased expression: T cell RGD PMID:20945034 PMID:28101786 RGD:38456004 RGD:38549361 NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741 		JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 ISO OMIM:159580 MouseDO NCBI chr 2:15,300,401...15,481,535
Ensembl chr 2:15,299,723...15,481,495 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15753
    Pathological Conditions, Signs and Symptoms 12322
      Signs and Symptoms 10317
        Neurologic Manifestations 9992
          Paresis 29
            Paraparesis 23
              Spastic Paraparesis + 21
paths to the root