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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 voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Myelitis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595 		JBrowse link
G LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO DNA:polymorphism: :HLA-DPB1*0201 (human) RGD PMID:22884298 RGD:150429795 NCBI chrNW_004955437:1,655,092...1,666,552
Ensembl chrNW_004955437:1,635,538...1,669,042 		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 chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709 		JBrowse link
G Cd59 CD59 molecule (CD59 blood group) severity ISO RGD PMID:28212662 RGD:13792592 NCBI chrNW_004955422:12,500,572...12,528,738 JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chrNW_004955451:17,695,835...17,703,894
Ensembl chrNW_004955451:17,695,835...17,703,268 		JBrowse link
G Il21 interleukin 21 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492 		JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chrNW_004955402:60,324,060...60,448,926
Ensembl chrNW_004955402:60,323,950...60,441,406 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Nefh neurofilament heavy chain ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chrNW_004955455:3,735,330...3,744,714
Ensembl chrNW_004955455:3,735,410...3,744,107 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026 		JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chrNW_004955407:42,972,584...42,980,510
Ensembl chrNW_004955407:42,972,584...42,980,510 		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 chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chrNW_004955410:25,079,835...25,084,390 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 chrNW_004955463:254,407...285,178
Ensembl chrNW_004955463:257,934...285,228 		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 chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO mRNA:decreased expression: T cell RGD PMID:20945034 RGD:38549361 NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460 		JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 severity ISO protein:increased expression:plasma (human) RGD PMID:26800845 RGD:39939014 NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643 		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 chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606 		JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO RGD PMID:11984596 RGD:10045967 NCBI chrNW_004955458:1,530,163...1,536,874 JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:28378248 RGD:127285561 NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492 		JBrowse link
G Il27 interleukin 27 ISO associated with HTLV-I Infections;mRNA:decreased expression:blood (human) RGD PMID:24041428 RGD:126790519 NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO associated with Sjogren's Syndrome RGD PMID:10464559 RGD:8657078 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 susceptibility ISO DNA:SNP:5'utr: (rs3138045) (human) RGD PMID:22170554 RGD:39018559 NCBI chrNW_004955496:5,842,734...5,950,995
Ensembl chrNW_004955496:5,842,600...5,927,885 		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 NCBI chrNW_004955486:9,571,527...9,573,733
Ensembl chrNW_004955486:9,571,530...9,573,733 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO OMIM:159580 MouseDO NCBI chrNW_004955429:23,011,627...23,198,188
Ensembl chrNW_004955429:23,010,790...23,198,250 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14316
    disease by infectious agent 1959
      Bacterial Infections and Mycoses 969
        Central Nervous System Infections 292
          myelitis 23
            acute flaccid myelitis 0
            poliomyelitis + 0
            transverse myelitis + 11
            tropical spastic paraparesis 11
Path 2
Term Annotations click to browse term
  disease 14316
    disease of anatomical entity 14023
      nervous system disease 12336
        central nervous system disease 11048
          Central Nervous System Infections 292
            myelitis 23
              acute flaccid myelitis 0
              poliomyelitis + 0
              transverse myelitis + 11
              tropical spastic paraparesis 11
paths to the root