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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:relapsing-remitting multiple sclerosis
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Accession:DOID:2378 term browser browse the term
Definition:A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles. (DO)
Synonyms:exact_synonym: Acute Relapsing Multiple Sclerosis;   RRMS;   Relapsing-remitting MS
 primary_id: MESH:D020529
 xref: EFO:0003929;   NCI:C165675
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
relapsing-remitting multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34624384 NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
JBrowse link
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO DNA:SNP:intron: C>T (human) RGD PMID:15913795 RGD:6771190 NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866
JBrowse link
G Apoa4 apolipoprotein A4 onset ISO protein:decreased expression:cerebrospinal fluid (human) RGD PMID:19383442 RGD:5685649 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15096402 PMID:34624384 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:20855355 RGD:6893496 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Cd80 Cd80 molecule ISO protein:increased expression:blood, B cell RGD PMID:21310664 RGD:6893670 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:10976643 RGD:5686865 NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
JBrowse link
G Ctss cathepsin S ISO mRNA, protein:increased expression:blood, leukocyte RGD PMID:21143385 RGD:5687146 NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:polymorphism:intron:735T>C(human) RGD PMID:15218339 RGD:12903953 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Grn granulin precursor disease_progression ISO protein:increased expression:cerebrospinal fluids RGD PMID:21613335 RGD:5509591 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:15153541 RGD:5128853 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis ClinVar NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:21824468 RGD:5688780 NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
JBrowse link
G Klc1 kinesin light chain 1 susceptibility ISO DNA:SNP:intron:56836G>C (rs8702) (human) RGD PMID:17999208 RGD:5684008 NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:130,823,419...130,867,031
JBrowse link
G Mmp19 matrix metallopeptidase 19 ISO mRNA:increased expression:mononuclear cell RGD PMID:11438176 RGD:1642025 NCBI chr 7:1,221,229...1,229,555
Ensembl chr 7:1,221,343...1,229,555
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nefh neurofilament heavy chain treatment ISO RGD PMID:15222692 RGD:27226879 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nefl neurofilament light chain ISO associated with relapse;protein:increased expression:serum (human)
protein:increased expression:CSF (human)
RGD PMID:30761586 PMID:33658322 RGD:127285025, RGD:127285027 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 disease_progression ISO DNA:SNPs: :rs3135499,rs2066842(human) RGD PMID:20595247 RGD:13204725 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Nog noggin ISO mRNA,protein:decreased expression:mononuclear cell" RGD PMID:21111488 RGD:12801480 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:brain, cerebrospinal fluid RGD PMID:12076997 RGD:5508822 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
JBrowse link
G Serpine1 serpin family E member 1 disease_progression ISO protein:increased expression:plasma: RGD PMID:10739162 RGD:13208510 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          autoimmune disease of central nervous system 385
            Demyelinating Autoimmune Diseases, CNS 378
              multiple sclerosis 219
                relapsing-remitting multiple sclerosis 23
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Immune & Inflammatory Diseases 5574
        immune system disease 4782
          primary immunodeficiency disease 4152
            autoimmune disease 2326
              autoimmune disease of the nervous system 672
                autoimmune disease of central nervous system 385
                  Demyelinating Autoimmune Diseases, CNS 378
                    multiple sclerosis 219
                      relapsing-remitting multiple sclerosis 23
paths to the root