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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 IDA
EXP
ISO
IAGP		 CTD Direct Evidence: marker/mechanism
associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human)		 CTD
RGD		 PMID:18509235 PMID:24070676 PMID:16087714 PMID:22271321 PMID:18420727 More... RGD:5148024, RGD:8696034, RGD:8696033, RGD:8696032, RGD:8696026, RGD:8695993, RGD:5148032 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
G CD59 CD59 molecule (CD59 blood group) severity ISO RGD PMID:28212662 RGD:13792592 NCBI chr11:33,703,010...33,736,479
Ensembl chr11:33,703,010...33,736,479 		JBrowse link
G GFAP glial fibrillary acidic protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human)		 RGD PMID:21908482 PMID:27049564 RGD:7421588, RGD:11530523 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP 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 chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IL21 interleukin 21 IEP protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066 		JBrowse link
G IL32 interleukin 32 exacerbates IEP protein:increased expression:blood plasma (human) RGD PMID:23180362 RGD:150340728 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192 		JBrowse link
G IL6 interleukin 6 severity IEP protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G MBP myelin basic protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NEFH neurofilament heavy chain IEP protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NEFL neurofilament light chain IEP protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G S100B S100 calcium binding protein B IEP RGD PMID:21371524 RGD:5508767 NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    disease of cellular proliferation 23028
      Paraneoplastic Syndromes 31
        Nervous System Paraneoplastic Syndromes 26
          transverse myelitis 20
            neuromyelitis optica 19
Path 2
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      Immune & Inflammatory Diseases 18495
        immune system disease 15091
          primary immunodeficiency disease 12618
            autoimmune disease 8868
              autoimmune disease of the nervous system 712
                autoimmune disease of central nervous system 366
                  Demyelinating Autoimmune Diseases, CNS 351
                    transverse myelitis 20
                      neuromyelitis optica 19
paths to the root