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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:Spastic Paraparesis
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Accession:DOID:9002598 term browser browse the term
Definition:Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.
Synonyms:exact_synonym: Spastic Lower Extremity Weakness;   Spastic Parapareses
 narrow_synonym: PROGRESSIVE SPASTIC PARAPARESIS
 primary_id: MESH:D020336


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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 5:142,299,190...142,362,540
Ensembl chr 5:142,331,329...142,362,540 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:28492532 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:25741868 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		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
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 neurodevelopmental disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33239752 NCBI chr 1:167,644,622...167,705,868
Ensembl chr 1:167,644,677...167,705,730 		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
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 19099
    Pathological Conditions, Signs and Symptoms 13605
      Signs and Symptoms 11184
        Neurologic Manifestations 10420
          Paresis 31
            Paraparesis 22
              Spastic Paraparesis 20
                Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 0
                CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 1
                Gemignani Syndrome 0
                Multiple Exostoses with Spastic Tetraparesis 0
                Spastic Paresis, Glaucoma, and Mental Retardation 0
                tropical spastic paraparesis 13
paths to the root