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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:neuromyelitis optica
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Accession:DOID:8869 term browser browse the term
Definition:A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). (DO)
Synonyms:exact_synonym: Devic disease;   Devic neuromyelitis optica;   Devic neuromyelitis opticas;   Devic syndrome;   Devic's disease;   Devic's neuromyelitis optica;   Devic's syndrome;   Devics Neuromyelitis Optica;   Devics disease;   Devics syndrome;   NMO spectrum disorder;   neuromyelitis optica (NMO) spectrum disorder;   neuromyelitis optica spectrum disorder
 narrow_synonym: AQP4-IgG-negative neuromyelitis optica;   AQP4-IgG-positive neuromyelitis optica
 primary_id: MESH:D009471
 xref: EFO:0004256;   EFO:0009584;   EFO:0009585;   GARD:6267;   ICD10CM:G36.0;   ICD9CM:341.0;   NCI:C84934;   ORDO:71211
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089 		JBrowse link
G CD59 CD59 molecule severity ISO RGD PMID:28212662 RGD:13792592 NCBI chr18:33,977,433...33,999,145
Ensembl chr18:33,977,480...33,998,329 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility ISO DNA:polymorphism:: HLA-DQB1*02:02 (human)
DNA:polymorphism:cds:HLA-DQB1*0402 (human)		 RGD PMID:21908482 PMID:27049564 RGD:11530523 RGD:7421588 NCBI chr12:2,305,307...2,307,711 JBrowse link
G GFAP glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr 9:18,569,868...18,579,463
Ensembl chr 9:18,569,892...18,579,461 		JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)		 RGD PMID:21748712 PMID:27049564 RGD:11530523 RGD:5147590 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IL21 interleukin 21 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266 		JBrowse link
G IL32 interleukin 32 exacerbates ISO protein:increased expression:blood plasma (human) RGD PMID:23180362 RGD:150340728 NCBI chr 6:38,119,287...38,122,979 JBrowse link
G IL6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G MBP myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G NEFH neurofilament heavy chain ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125 		JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224 		JBrowse link
G S100B S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of cellular proliferation 7263
      Paraneoplastic Syndromes 25
        Nervous System Paraneoplastic Syndromes 20
          transverse myelitis 14
            neuromyelitis optica 13
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      Immune & Inflammatory Diseases 5008
        immune system disease 4336
          primary immunodeficiency disease 3735
            autoimmune disease 1994
              autoimmune disease of the nervous system 558
                autoimmune disease of central nervous system 300
                  Demyelinating Autoimmune Diseases, CNS 293
                    transverse myelitis 14
                      neuromyelitis optica 13
paths to the root