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: HTLV-1-associated myelopathy/tropical spastic paraparesis
Accession: DOID:321
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Definition: A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), 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-1-associated myelopathies; HTLV-1-associated myelopathy; HTLV-1-associated myelopathy/tropical spastic paraparesis; HTLV-I associated myelopathies; HTLV-I associated myelopathy; HTLV-associated myelopathy; Human T Lymphotropic Virus Type 1 Associated Myelopathy; tropical spastic paralysis; tropical spastic paraparesis; tropical spastic paraplegia; tropical spastic paraplegias
xref: EFO:0007527 ; ICD10CM:G04.1 ; MESH:D015493 ; MIM:159580 ; MONDO:0008039 ; NCI:C179058
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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 chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
G
Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
G
Cxcl8
C-X-C motif chemokine ligand 8
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:26800845
RGD:39939014
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
G
Foxp3
forkhead box P3
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
G
Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chrNW_004955458:1,530,163...1,536,874
G
Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492
G
Il27
interleukin 27
ISO
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
G
Mmp2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
G
Nfkb1
nuclear factor kappa B subunit 1
susceptibility
ISO
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chrNW_004955496:5,842,734...5,950,995
Ensembl chrNW_004955496:5,842,600...5,927,885
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 chrNW_004955486:9,571,527...9,573,733
Ensembl chrNW_004955486:9,571,530...9,573,733
G
Zeb1
zinc finger E-box binding homeobox 1
ISO
OMIM:159580
MouseDO
NCBI chrNW_004955429:23,011,627...23,198,188
Ensembl chrNW_004955429:23,010,790...23,198,250
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