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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 6:88,256,144...88,293,519
Ensembl chr 6:88,256,146...88,293,330 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:28492532 NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:25741868 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844 		JBrowse link
G PTPRZ1 protein tyrosine phosphatase receptor type Z1 ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:25741868 NCBI chr18:25,046,027...25,228,276
Ensembl chr18:25,045,742...25,168,053 		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 3:107,439,810...107,508,915
Ensembl chr 3:107,439,813...107,508,926 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:11222789 PMID:14985266 PMID:16534102 PMID:17661097 PMID:18200586 More... NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212 		JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23176824
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 chr 2:45,532,718...45,605,591
Ensembl chr 2:45,462,210...45,605,107 		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 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO mRNA:decreased expression: T cell RGD PMID:20945034 RGD:38549361 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity ISO protein:increased expression:plasma (human) RGD PMID:26800845 RGD:39939014 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		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:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO RGD PMID:11984596 RGD:10045967 NCBI chr 5:19,485,033...19,491,418
Ensembl chr 5:19,485,096...19,491,417 		JBrowse link
G IL21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:28378248 RGD:127285561 NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713 		JBrowse link
G IL27 interleukin 27 ISO associated with HTLV-I Infections;mRNA:decreased expression:blood (human) RGD PMID:24041428 RGD:126790519 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915 		JBrowse link
G IL29 interleukin 29 (interferon, lambda 1) ISO associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:29990995 RGD:126848769 NCBI chr17:51,484,658...51,485,233
Ensembl chr17:51,484,658...51,485,233 		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 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO associated with Sjogren's Syndrome RGD PMID:10464559 RGD:8657078 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		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 8:118,391,010...118,478,927
Ensembl chr 8:118,390,638...118,506,691 		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 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405 		JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 ISO OMIM:159580 MouseDO NCBI chr10:42,013,114...42,216,139
Ensembl chr10:42,013,084...42,214,205 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15426
    Pathological Conditions, Signs and Symptoms 12090
      Signs and Symptoms 10145
        Neurologic Manifestations 9825
          Paresis 29
            Paraparesis 23
              Spastic Paraparesis 21
                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