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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:myelitis
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Accession:DOID:322 term browser browse the term
Definition:A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord. (DO)
Synonyms:exact_synonym: Infectious Myelitis;   Inflammatory Myelopathy;   Myelitides;   Spinal Cord Inflammation;   Spinal Cord Inflammations;   inflammatory myelopathies;   subacute necrotising myelitis
 primary_id: MESH:D009187
 xref: EFO:1001472;   GARD:7130;   NCI:C26832
For additional species annotation, visit the Alliance of Genome Resources.



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myelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Myelitis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
JBrowse link
neuromyelitis optica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 disease_progression ISO
IDA
IMP
IEP
CTD Direct Evidence: marker/mechanism
associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human)
CTD
RGD
PMID:18509235 PMID:24070676 PMID:16087714 PMID:22271321 PMID:22271321 More... RGD:5148024, RGD:8696034, RGD:8696034, RGD:8696034, RGD:8696033, RGD:8696032, RGD:8696026, RGD:8695993, RGD:5148032 NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
JBrowse link
G Cd59b CD59b antigen severity ISO RGD PMID:28212662 RGD:13792592 NCBI chr 2:103,900,127...103,920,619
Ensembl chr 2:103,896,142...103,921,534
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr11:102,778,162...102,791,368
Ensembl chr11:102,778,162...102,791,738
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD PMID:21908482 PMID:27049564 RGD:7421588, RGD:11530523 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD PMID:21748712 PMID:27049564 RGD:5147590, RGD:11530523 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Il21 interleukin 21 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Nefh neurofilament, heavy polypeptide ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064
JBrowse link
G Nefl neurofilament, light polypeptide ISO protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
JBrowse link
G S100b S100 protein, beta polypeptide, neural ISO RGD PMID:21371524 RGD:5508767 NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
JBrowse link
poliomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pvr poliovirus receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:3020560 PMID:28446605 NCBI chr 7:19,637,503...19,655,068
Ensembl chr 7:19,637,503...19,655,085
JBrowse link
transverse myelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:21771203 PMID:23999580 RGD:5148008, RGD:8696028 NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Vps37a vacuolar protein sorting 37A ISO ClinVar Annotator: match by term: Idiopathic transverse myelitis ClinVar PMID:25741868 PMID:28492532 PMID:29473047 NCBI chr 8:40,964,482...41,004,175
Ensembl chr 8:40,964,824...41,003,798
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
vestibular neuronitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein, pentraxin-related disease_progression ISO RGD PMID:14636287 RGD:9491594 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16223
    disease by infectious agent 2237
      Bacterial Infections and Mycoses 1087
        Central Nervous System Infections 320
          myelitis 27
            acute flaccid myelitis 0
            poliomyelitis + 2
            transverse myelitis + 13
            tropical spastic paraparesis 13
Path 2
Term Annotations click to browse term
  disease 16223
    disease of anatomical entity 15842
      nervous system disease 13764
        central nervous system disease 12280
          Central Nervous System Infections 320
            myelitis 27
              acute flaccid myelitis 0
              poliomyelitis + 2
              transverse myelitis + 13
              tropical spastic paraparesis 13
paths to the root