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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:Paraparesis
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Accession:DOID:9008173 term browser browse the term
Definition:Mild to moderate loss of bilateral lower extremity motor function, which may be a manifestation of SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; MUSCULAR DISEASES; INTRACRANIAL HYPERTENSION; parasagittal brain lesions; and other conditions.
Synonyms:exact_synonym: Cerebral Paraparesis;   Chronic Progressive Paraparesis;   Hypotonic Paraparesis;   Parapareses;   Spinal Paraparesis
 xref: MESH:D020335


show annotations for term's descendants           Sort by:
Paraparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Paraparesis ClinVar PMID:25741868 NCBI chr 7:55,699,872...55,884,373
Ensembl chr 7:55,699,944...55,881,548 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO associated with Lathyrism RGD PMID:23068093 RGD:10766441 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		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 condition | ClinVar Annotator: match by term: FAR1-related neurodevelopmental disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33239752 NCBI chr 7:113,113,008...113,170,713
Ensembl chr 7:113,113,041...113,170,718 		JBrowse link
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 4:129,878,566...129,916,426
Ensembl chr 4:129,878,663...129,916,426 		JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:28492532 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:25741868 NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		JBrowse link
G Ptprz1 protein tyrosine phosphatase receptor type Z, polypeptide 1 ISO ClinVar Annotator: match by term: Spastic paraparesis ClinVar PMID:25741868 NCBI chr 6:22,875,302...23,052,915
Ensembl chr 6:22,875,501...23,052,915 		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 chr17:74,643,805...74,698,110
Ensembl chr17:74,645,982...74,698,110 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23176824 NCBI chr12:110,855,681...110,938,828
Ensembl chr12:110,855,698...110,938,828 		JBrowse link
tropical spastic paraparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement component 3 ISO protein:increased processing:plasma RGD PMID:7561187 RGD:11040775 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA:decreased expression: T cell RGD PMID:20945034 RGD:38549361 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 severity ISO protein:increased expression:plasma (human) RGD PMID:26800845 RGD:39939014 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		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:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO RGD PMID:25729550 RGD:36174012 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO RGD PMID:11984596 RGD:10045967 NCBI chr15:103,148,840...103,155,119
Ensembl chr15:103,148,859...103,155,119 		JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:28378248 RGD:127285561 NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785 		JBrowse link
G Il27 interleukin 27 ISO associated with HTLV-I Infections;mRNA:decreased expression:blood (human) RGD PMID:24041428 RGD:126790519 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113 		JBrowse link
G Klrk1 killer cell lectin-like receptor subfamily K, member 1 susceptibility ISO DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human) RGD PMID:22170554 RGD:39018559 NCBI chr 6:129,587,286...129,600,863
Ensembl chr 6:129,587,286...129,600,827 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO associated with Sjogren's Syndrome RGD PMID:10464559 RGD:8657078 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 susceptibility ISO DNA:SNP:5'utr: (rs3138045) (human) RGD PMID:22170554 RGD:39018559 NCBI chr 3:135,290,416...135,397,422
Ensembl chr 3:135,290,416...135,397,308 		JBrowse link
G Tnfrsf18 tumor necrosis factor receptor superfamily, member 18 disease_progression ISO mRNA:decreased expression: T cell RGD PMID:28101786 PMID:20945034 RGD:38456004, RGD:38549361 NCBI chr 4:156,110,779...156,113,351
Ensembl chr 4:156,110,621...156,113,352 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 IAGP OMIM:159580 MouseDO NCBI chr18:5,591,330...5,775,468
Ensembl chr18:5,591,860...5,775,467 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16269
    Pathological Conditions, Signs and Symptoms 12658
      Signs and Symptoms 10546
        Neurologic Manifestations 10203
          Paresis 28
            Paraparesis 22
              Spastic Paraparesis + 20
paths to the root