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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
IDA
IEP
IMP		 DNA:polymorphism:promoter:-1003A>G(human)
associated withHiccup;
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18509235 PMID:24070676 PMID:16087714 PMID:20047900 PMID:23995423 More... RGD:5148024, RGD:5148032, RGD:8695993, RGD:8696026, RGD:8696032, RGD:8696033, RGD:8696034, RGD:8696034, RGD:8696034 NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039 		JBrowse link
G Cd59b CD59b antigen severity ISO RGD PMID:28212662 RGD:13792592 NCBI chr 2:103,900,127...103,920,619
Ensembl chr 2:103,896,142...103,921,534 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr11:102,778,162...102,791,368
Ensembl chr11:102,778,162...102,791,738 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human)		 RGD PMID:21908482 PMID:27049564 RGD:7421588, RGD:11530523 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO 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 chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Il21 interleukin 21 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785 		JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Nefh neurofilament, heavy polypeptide ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064 		JBrowse link
G Nefl neurofilament, light polypeptide ISO protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544 		JBrowse link
G S100b S100 protein, beta polypeptide, neural ISO RGD PMID:21371524 RGD:5508767 NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16230
    disease of cellular proliferation 7742
      Paraneoplastic Syndromes 24
        Nervous System Paraneoplastic Syndromes 19
          transverse myelitis 13
            neuromyelitis optica 12
Path 2
Term Annotations click to browse term
  disease 16230
    disease of anatomical entity 15849
      Immune & Inflammatory Diseases 5365
        immune system disease 4634
          primary immunodeficiency disease 4024
            autoimmune disease 2112
              autoimmune disease of the nervous system 609
                autoimmune disease of central nervous system 309
                  Demyelinating Autoimmune Diseases, CNS 302
                    transverse myelitis 13
                      neuromyelitis optica 12
paths to the root