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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:tropical spastic paraparesis
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Accession:DOID:321 term browser browse the term
Definition:A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms. (DO)
Synonyms:exact_synonym: Familial Spastic Paraparesis, Htlv 1 Associated;   HAM;   HAM/TSP;   HTLV I Associated Myelopathy;   HTLV I Associated Myelopathy Tropical Spastic Paraparesis;   HTLV I associated myelopathies;   HTLV-1-associated myelopathies;   HTLV-1-associated myelopathy/tropical spastic paraparesis;   HTLV-associated myelopathy;   Htlv-1-Associated Myelopathy;   Human T Lymphotropic Virus Type 1 Associated Myelopathy;   Tropical Spastic Parapareses;   tropical spastic paralysis;   tropical spastic paraplegia;   tropical spastic paraplegias
 primary_id: MESH:D015493
 alt_id: OMIM:159580
 xref: EFO:0007527;   ICD10CM:G04.1;   NCI:C179058
For additional species annotation, visit the Alliance of Genome Resources.


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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 17773
    disease by infectious agent 2127
      Bacterial Infections and Mycoses 1009
        Central Nervous System Infections 271
          myelitis 29
            tropical spastic paraparesis 14
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Neurologic Manifestations 9572
          Paresis 27
            Paraparesis 22
              Spastic Paraparesis 20
                tropical spastic paraparesis 14
paths to the root