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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 ISO ClinVar Annotator: match by term: Myelitis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729 		JBrowse link
G LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO DNA:polymorphism: :HLA-DPB1*0201 (human) RGD PMID:22884298 RGD:150429795 NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387 		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 DNA:polymorphism:promoter:-1003A>G(human)
associated withHiccup;
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16087714 PMID:18420727 PMID:18509235 PMID:20047900 PMID:22271321 More... RGD:5148024 RGD:5148032 RGD:8695993 RGD:8696026 RGD:8696032 RGD:8696033 RGD:8696034 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919 		JBrowse link
G CD59 CD59 molecule (CD59 blood group) severity ISO RGD PMID:28212662 RGD:13792592 NCBI chr11:33,680,580...33,708,479
Ensembl chr11:33,552,164...33,590,157 		JBrowse link
G GFAP glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr17:12,407,211...12,417,072
Ensembl chr17:12,579,754...12,591,961 		JBrowse link
G IL21 interleukin 21 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915 		JBrowse link
G IL32 interleukin 32 exacerbates ISO protein:increased expression:blood plasma (human) RGD PMID:23180362 RGD:150340728 NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929 		JBrowse link
G IL6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human)		 RGD PMID:21908482 PMID:27049564 RGD:11530523 RGD:7421588 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		JBrowse link
G MBP myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G NEFH neurofilament heavy chain ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr22:10,525,738...10,536,788 JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694 		JBrowse link
G S100B S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3020560 PMID:28446605 NCBI chr19:41,592,042...41,614,397
Ensembl chr19:50,196,980...50,217,006 		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 chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919 		JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G VPS37A VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Idiopathic transverse myelitis ClinVar PMID:25741868 PMID:28492532 PMID:29473047 NCBI chr 8:16,459,660...16,508,333
Ensembl chr 8:13,404,889...13,456,046 		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 ISO protein:increased processing:plasma RGD PMID:7561187 RGD:11040775 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO mRNA:decreased expression: T cell RGD PMID:20945034 RGD:38549361 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity ISO protein:increased expression:plasma (human) RGD PMID:26800845 RGD:39939014 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083 		JBrowse link
G FOXP3 forkhead box P3 disease_progression ISO mRNA:decreased expression: T cell RGD PMID:20945034 PMID:28101786 RGD:38456004 RGD:38549361 NCBI chr  X:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO RGD PMID:11984596 RGD:10045967 NCBI chr12:34,456,900...34,463,317
Ensembl chr12:35,184,943...35,188,443 		JBrowse link
G IL21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:28378248 RGD:127285561 NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915 		JBrowse link
G IL27 interleukin 27 ISO associated with HTLV-I Infections;mRNA:decreased expression:blood (human) RGD PMID:24041428 RGD:126790519
G KLRK1 killer cell lectin like receptor K1 susceptibility ISO DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human) RGD PMID:22170554 RGD:39018559 NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078 		JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO RGD PMID:25729550 RGD:36174012 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		JBrowse link
G LOC100976419 interferon lambda-1 ISO associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:29990995 RGD:126848769 NCBI chr19:36,394,462...36,397,363
Ensembl chr19:44,942,186...44,944,519 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO associated with Sjogren's Syndrome RGD PMID:10464559 RGD:8657078 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 susceptibility ISO DNA:SNP:5'utr: (rs3138045) (human) RGD PMID:22170554 RGD:39018559 NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 disease_progression ISO mRNA:decreased expression: T cell RGD PMID:20945034 PMID:28101786 RGD:38456004 RGD:38549361
G ZEB1 zinc finger E-box binding homeobox 1 ISO OMIM:159580 MouseDO NCBI chr10:31,449,202...31,659,534
Ensembl chr10:32,046,491...32,253,550 		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 ISO RGD PMID:14636287 RGD:9491594 NCBI chr 1:135,062,102...135,064,402 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15805
    disease by infectious agent 2145
      Bacterial Infections and Mycoses 1056
        Central Nervous System Infections 317
          myelitis 29
            acute flaccid myelitis 0
            poliomyelitis + 2
            transverse myelitis + 13
            tropical spastic paraparesis 14
Path 2
Term Annotations click to browse term
  disease 15805
    disease of anatomical entity 15483
      nervous system disease 13566
        central nervous system disease 12125
          Central Nervous System Infections 317
            myelitis 29
              acute flaccid myelitis 0
              poliomyelitis + 2
              transverse myelitis + 13
              tropical spastic paraparesis 14
paths to the root