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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.


show annotations for term's descendants           Sort by:
myelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Myelitis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 susceptibility IAGP DNA:polymorphism: :HLA-DPB1*0201 (human) RGD PMID:22884298 RGD:150429795 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		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 IDA
EXP
ISO
IAGP		 CTD Direct Evidence: marker/mechanism
associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human)		 CTD
RGD		 PMID:18509235 PMID:24070676 PMID:16087714 PMID:22271321 PMID:18420727 More... RGD:5148024, RGD:8696034, RGD:8696033, RGD:8696032, RGD:8696026, RGD:8695993, RGD:5148032 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
G CD59 CD59 molecule (CD59 blood group) severity ISO RGD PMID:28212662 RGD:13792592 NCBI chr11:33,703,010...33,736,479
Ensembl chr11:33,703,010...33,736,479 		JBrowse link
G GFAP glial fibrillary acidic protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human)		 RGD PMID:21908482 PMID:27049564 RGD:7421588, RGD:11530523 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP 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 chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IL21 interleukin 21 IEP protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066 		JBrowse link
G IL32 interleukin 32 exacerbates IEP protein:increased expression:blood plasma (human) RGD PMID:23180362 RGD:150340728 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192 		JBrowse link
G IL6 interleukin 6 severity IEP protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G MBP myelin basic protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NEFH neurofilament heavy chain IEP protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NEFL neurofilament light chain IEP protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G S100B S100 calcium binding protein B IEP RGD PMID:21371524 RGD:5508767 NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208 		JBrowse link
poliomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PVR PVR cell adhesion molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:3020560 PMID:28446605 NCBI chr19:44,643,910...44,666,162
Ensembl chr19:44,643,798...44,666,162 		JBrowse link
transverse myelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 IDA RGD PMID:21771203 PMID:23999580 RGD:5148008, RGD:8696028 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
G IL6 interleukin 6 IEP protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G VPS37A VPS37A subunit of ESCRT-I IAGP ClinVar Annotator: match by term: Idiopathic transverse myelitis ClinVar PMID:25741868 PMID:28492532 PMID:29473047 NCBI chr 8:17,246,958...17,333,455
Ensembl chr 8:17,246,931...17,302,427 		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 IEP protein:increased processing:plasma RGD PMID:7561187 RGD:11040775 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IEP mRNA:decreased expression: T cell RGD PMID:20945034 RGD:38549361 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity IEP protein:increased expression:plasma (human) RGD PMID:26800845 RGD:39939014 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G FOXP3 forkhead box P3 disease_progression IEP mRNA:decreased expression: T cell RGD PMID:28101786 PMID:20945034 RGD:38456004, RGD:38549361 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP RGD PMID:25729550 RGD:36174012 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IDA RGD PMID:11984596 RGD:10045967 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G IFNL1 interferon lambda 1 IEP associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:29990995 RGD:126848769 NCBI chr19:39,296,407...39,298,673
Ensembl chr19:39,296,407...39,298,673 		JBrowse link
G IL21 interleukin 21 IEP protein:decreased expression:blood serum (human) RGD PMID:28378248 RGD:127285561 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066 		JBrowse link
G IL27 interleukin 27 IEP associated with HTLV-I Infections;mRNA:decreased expression:blood (human) RGD PMID:24041428 RGD:126790519 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051 		JBrowse link
G KLRK1 killer cell lectin like receptor K1 susceptibility IAGP DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human) RGD PMID:22170554 RGD:39018559 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874 		JBrowse link
G MMP2 matrix metallopeptidase 2 IEP associated with Sjogren's Syndrome RGD PMID:10464559 RGD:8657078 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 susceptibility IAGP DNA:SNP:5'utr: (rs3138045) (human) RGD PMID:22170554 RGD:39018559 NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 disease_progression IEP mRNA:decreased expression: T cell RGD PMID:28101786 PMID:20945034 RGD:38456004, RGD:38549361 NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592 		JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 ISS OMIM:159580 MouseDO NCBI chr10:31,318,417...31,529,804
Ensembl chr10:31,318,495...31,529,814 		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 disease_progression IEP RGD PMID:14636287 RGD:9491594 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    disease by infectious agent 4423
      Bacterial Infections and Mycoses 1762
        Central Nervous System Infections 404
          myelitis 48
            acute flaccid myelitis 0
            poliomyelitis + 6
            transverse myelitis + 20
            tropical spastic paraparesis 22
Path 2
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      nervous system disease 53022
        central nervous system disease 38426
          Central Nervous System Infections 404
            myelitis 48
              acute flaccid myelitis 0
              poliomyelitis + 6
              transverse myelitis + 20
              tropical spastic paraparesis 22
paths to the root