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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 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
Ensembl chr 1:83,798,703...83,800,235 		JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:28378248 RGD:127285561 NCBI chr 2:120,117,105...120,127,012
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 21128
    disease by infectious agent 2211
      Bacterial Infections and Mycoses 1072
        Central Nervous System Infections 296
          myelitis 30
            tropical spastic paraparesis 13
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          Paresis 29
            Paraparesis 21
              Spastic Paraparesis 19
                tropical spastic paraparesis 13
paths to the root