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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 chr 6:11,883,353...12,307,023 JBrowse link
G MHC-DPB1 major histocompatibility complex, class II, DP beta 1 susceptibility ISO DNA:polymorphism: :HLA-DPB1*0201 (human) RGD PMID:22884298 RGD:150429795 NCBI chr17:38,996,329...39,007,097 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 CTD Direct Evidence: marker/mechanism
associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human)		 CTD
RGD		 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 chr18:53,729,143...53,742,916
Ensembl chr18:53,729,186...53,743,156 		JBrowse link
G CD59 CD59 molecule (CD59 blood group) severity ISO RGD PMID:28212662 RGD:13792592 NCBI chr 1:31,547,876...31,571,720
Ensembl chr 1:31,547,937...31,570,835 		JBrowse link
G GFAP glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr16:61,489,090...61,499,672
Ensembl chr16:61,489,421...61,500,646 		JBrowse link
G IL21 interleukin 21 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chr 7:69,859,793...69,872,237
Ensembl chr 7:69,863,535...69,872,025 		JBrowse link
G IL6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G MBP myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:2,844,154...2,996,640
Ensembl chr18:2,868,795...2,997,046 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G NEFH neurofilament heavy chain ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr19:12,357,982...12,375,449 JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr 8:23,077,085...23,083,213
Ensembl chr 8:23,077,086...23,083,222 		JBrowse link
G S100B S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chr 2:90,188,820...90,194,986
Ensembl chr 2:90,188,639...90,195,023 		JBrowse link
poliomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103234825 PVR cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:3020560 PMID:28446605 NCBI chr 6:38,127,864...38,141,612 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 chr18:53,729,143...53,742,916
Ensembl chr18:53,729,186...53,743,156 		JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		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 8:15,333,570...15,384,451
Ensembl chr 8:15,333,557...15,374,678 		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 chr 6:6,250,422...6,289,264 JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO mRNA:decreased expression: T cell RGD PMID:20945034 RGD:38549361 NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344 		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 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068 		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:46,349,890...46,365,133 JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO RGD PMID:11984596 RGD:10045967 NCBI chr11:50,397,173...50,403,192
Ensembl chr11:50,396,888...50,400,802 		JBrowse link
G IL21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:28378248 RGD:127285561 NCBI chr 7:69,859,793...69,872,237
Ensembl chr 7:69,863,535...69,872,025 		JBrowse link
G IL27 interleukin 27 ISO associated with HTLV-I Infections;mRNA:decreased expression:blood (human) RGD PMID:24041428 RGD:126790519 NCBI chr 5:26,348,559...26,358,028
Ensembl chr 5:26,348,848...26,356,360 		JBrowse link
G LOC103234663 interferon lambda-1 ISO associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:29990995 RGD:126848769 NCBI chr 6:33,901,382...33,904,356
Ensembl chr 6:33,901,801...33,903,894 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO associated with Sjogren's Syndrome RGD PMID:10464559 RGD:8657078 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		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 7:50,589,494...50,711,472
Ensembl chr 7:50,589,856...50,711,498 		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 chr20:130,237,950...130,243,303
Ensembl chr20:130,225,847...130,242,251 		JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 ISO OMIM:159580 MouseDO NCBI chr 9:30,674,893...30,862,682
Ensembl chr 9:30,674,578...30,863,250 		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 chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease by infectious agent 2093
      Bacterial Infections and Mycoses 1024
        Central Nervous System Infections 313
          myelitis 26
            acute flaccid myelitis 0
            poliomyelitis + 2
            transverse myelitis + 11
            tropical spastic paraparesis 12
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13213
        central nervous system disease 11794
          Central Nervous System Infections 313
            myelitis 26
              acute flaccid myelitis 0
              poliomyelitis + 2
              transverse myelitis + 11
              tropical spastic paraparesis 12
paths to the root