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
Accession: DOID:2378
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 .
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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