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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:Nervous System Paraneoplastic Syndromes
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Accession:DOID:9003906 term browser browse the term
Definition:Degenerative or inflammatory conditions affecting the central or peripheral nervous system that develop in association with a systemic neoplasm without direct invasion by tumor. They may be associated with circulating antibodies that react with the affected neural tissue. (Intern Med 1996 Dec;35(12):925-9)
Synonyms:exact_synonym: Paraneoplastic Autonomic Dysfunction;   Paraneoplastic Autonomic Dysfunctions;   Paraneoplastic Encephalomyelitides;   Paraneoplastic Encephalomyelitis;   Paraneoplastic Neurologic Syndrome;   Paraneoplastic Neurologic Syndromes
 primary_id: MESH:D020361


show annotations for term's descendants           Sort by:
Anti-N-Methyl-D-Aspartate Receptor Encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefh neurofilament heavy chain treatment ISO RGD PMID:31313506 RGD:27226816 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Nefl neurofilament light chain treatment ISO RGD PMID:31313506 RGD:27226816 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
Infantile Polymyoclonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Infantile polymyoclonus ClinVar PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
Lambert-Eaton myasthenic syndrome 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 ISS MouseDO NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:16289869 RGD:1626312 NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091 		JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO RGD PMID:17764462 RGD:5133415 NCBI chr 1:205,567,226...205,583,001
Ensembl chr 1:205,567,220...205,582,356 		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		 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 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Cd59em1Ask CD59 molecule; CRISPR/Cas9 induced mutant1, Ask severity IMP RGD PMID:28212662 RGD:13792592
G Cd59b CD59b molecule severity IMP RGD PMID:28212662 RGD:13792592 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589 		JBrowse link
G Il21 interleukin 21 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996 		JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nefh neurofilament heavy chain ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G RT1-Bb RT1 class II, locus Bb 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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
Opsoclonus-Myoclonus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:1318289 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		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 chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		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 chr16:51,736,170...51,775,384
Ensembl chr16:51,737,481...51,775,390 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    disease of cellular proliferation 7791
      Paraneoplastic Syndromes 26
        Nervous System Paraneoplastic Syndromes 21
          Anti-N-Methyl-D-Aspartate Receptor Encephalitis 2
          Lambert-Eaton myasthenic syndrome 3
          Opsoclonus-Myoclonus Syndrome + 3
          Paraneoplastic Cerebellar Degeneration 0
          limbic encephalitis 0
          paraneoplastic polyneuropathy 0
          transverse myelitis + 15
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      nervous system disease 14258
        central nervous system disease 12591
          neurodegenerative disease 5004
            Nervous System Paraneoplastic Syndromes 21
              Anti-N-Methyl-D-Aspartate Receptor Encephalitis 2
              Lambert-Eaton myasthenic syndrome 3
              Opsoclonus-Myoclonus Syndrome + 3
              Paraneoplastic Cerebellar Degeneration 0
              limbic encephalitis 0
              paraneoplastic polyneuropathy 0
              transverse myelitis + 15
paths to the root