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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:autoimmune disease of peripheral nervous system
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Accession:DOID:0060033 term browser browse the term
Definition:An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. (DO)
Synonyms:primary_id: RDO:9002712
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
autoimmune optic neuritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefh neurofilament heavy severity ISO RGD PMID:23316360 RGD:27226805 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557 		JBrowse link
chronic inflammatory demyelinating polyradiculoneuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl28 C-C motif chemokine ligand 28 ISO RGD PMID:19050296 RGD:4890012 NCBI chr 2:52,379,341...52,403,979
Ensembl chr 2:52,379,341...52,404,246 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:sciatic nerve (mouse) RGD PMID:19050296 RGD:4890012 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:sural nerve RGD PMID:10408538 RGD:13204856 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
congenital myasthenic syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase susceptibility ISO DNA:frameshift mutation, missense mutations (human)
ClinVar Annotator: match by term: Familial infantile myasthenia
ClinVar Annotator: match by OMIM:254210		 ClinVar
OMIM		 PMID:7616604 PMID:11172068 PMID:12756141 PMID:15381704 PMID:15701560 PMID:18414213 PMID:19520274 PMID:19900826 PMID:21786365 PMID:21948486 PMID:24033266 PMID:25741868 PMID:26080897 PMID:26467025 PMID:26789281 PMID:28492532 PMID:28497657 PMID:29189923, PMID:11172068 RGD:1600831 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529 		JBrowse link
Experimental Autoimmune Myasthenia Gravis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc5 actin related protein 2/3 complex, subunit 5 treatment IEP RGD PMID:17997938 RGD:11049469 NCBI chr13:70,174,970...70,183,879
Ensembl chr13:70,174,936...70,183,879 		JBrowse link
G C3 complement C3 ISO
IEP		 RGD PMID:17962462, PMID:147324 RGD:7401263, RGD:11040804 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167 		JBrowse link
G C6 complement C6 susceptibility IAGP RGD PMID:17034580 RGD:1600670 NCBI chr 2:54,460,333...54,533,801
Ensembl chr 2:54,466,280...54,533,797 		JBrowse link
G Cd40lg CD40 ligand treatment IMP RGD PMID:11359850 RGD:8547800 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562 		JBrowse link
G Cfb complement factor B treatment IMP RGD PMID:25355917 RGD:11041161 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit treatment ISO RGD PMID:10606626 RGD:704386 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724 		JBrowse link
G Ctsl cathepsin L IEP mRNA:increased expression:quadriceps (rat) RGD PMID:16365386 RGD:2315588 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 IMP
IEP		 RGD PMID:19232748, PMID:15843529 RGD:2311364, RGD:1598501 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 IEP RGD PMID:15843529 RGD:1598501 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 IEP
IMP		 RGD PMID:15843529, PMID:19232748 RGD:1598501, RGD:2311364 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997 		JBrowse link
G Il15 interleukin 15 IEP protein:increased expression:skeletal muscle RGD PMID:11585642 RGD:1626617 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594 		JBrowse link
G Il23r interleukin 23 receptor IEP mRNA:increased expression:lymph node RGD PMID:21193288 RGD:5108250 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha IDA RGD PMID:18250419 RGD:2325986 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071 		JBrowse link
G Il4r interleukin 4 receptor IEP protein:increased expression:skeletal muscle RGD PMID:19395316 RGD:4889981 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220 		JBrowse link
G Musk muscle associated receptor tyrosine kinase IDA RGD PMID:17081697 RGD:2317084 NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694 		JBrowse link
G Myog myogenin IEP RGD PMID:1312030 RGD:9686077 NCBI chr13:51,126,459...51,129,048
Ensembl chr13:51,126,459...51,129,048 		JBrowse link
G Rapsn receptor-associated protein of the synapse IEP protein:decreased expression:neuromuscular junction RGD PMID:19344765 RGD:8549750 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524 		JBrowse link
Guillain-Barre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator ISS OMIM:139393 MouseDO NCBI chr20:11,365,630...11,380,636
Ensembl chr20:11,365,697...11,380,631 		JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:18343991 RGD:5685658 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 disease_progression ISO protein:increased expression:plasma (human) RGD PMID:12507779 RGD:8549645 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870 		JBrowse link
G Cd86 CD86 molecule ISS OMIM:139393 MouseDO NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795 		JBrowse link
G Cst3 cystatin C ISO protein:decreased expression:cerebrospinal fluid RGD PMID:11134381 RGD:5686395 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615 		JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:cerebrospinal fluid RGD PMID:11134381 RGD:5686395 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238 		JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO RGD PMID:15623725 RGD:1600925 NCBI chr10:88,669,216...88,670,430
Ensembl chr10:88,669,214...88,670,430 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Guillain-Barre syndrome, familial OMIM
ClinVar		 PMID:25741868 PMID:26392352 PMID:26467025 PMID:28492532 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583 		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 chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550 		JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:16289869 RGD:1626312 NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827 		JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO RGD PMID:17764462 RGD:5133415 NCBI chr 1:224,869,087...224,885,101
Ensembl chr 1:224,882,439...224,884,205 		JBrowse link
myasthenia gravis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ache acetylcholinesterase ISO RGD PMID:17986328 RGD:5509842 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753 		JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphisms:cds:p.R16G,Q27E(human) RGD PMID:10606977 RGD:8548470 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834 		JBrowse link
G Cfb complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:6605118 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066 		JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO RGD PMID:17764462 RGD:5133415 NCBI chr 1:224,869,087...224,885,101
Ensembl chr 1:224,882,439...224,884,205 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:15843529 RGD:1598501 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15843529 RGD:1598501 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:15661863 RGD:5509039 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:peripheral blood, T lymphocyte (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:15169653, PMID:23043710 RGD:8662430 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790 		JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO DNA:SNP, haplotype:intron:c.-33-11362T>C (rs743777) (human) RGD PMID:20728947 RGD:5684377 NCBI chr 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238 		JBrowse link
G Musk muscle associated receptor tyrosine kinase treatment
severity		 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (human)		 CTD PMID:22981737 PMID:27119269, PMID:22218276, PMID:26025053 RGD:38599166, RGD:38599165 NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4323972 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp: cds: 1858T RGD PMID:19693092 RGD:6484722 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms: :HLA-DQA1*0101/2, HLA-DQA1*0501 (human)
DNA:polymorphisms, haplotype:cds:HLA-DQA!*0501, HLA-DQA1*0301 (human)		 RGD PMID:19561379, PMID:10593018 RGD:5147612, RGD:5147855 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms: :HLA-DBQ1*0301, HLA-DBQ1*0502, HLA-DBQ1*0602/3 (human)
DNA:polymorphism, haplotype:cds:HLA-DQB1*0302 (human)		 RGD PMID:19561379, PMID:10593018 RGD:5147612, RGD:5147855 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility
onset		 ISO DNA:polymorphism: :HLA-DRB1∗09,HLA- DRB1∗08(human)
DNA:polymorphism: :HLA-DRB1*0901, HLA-DRB1*1302(human)		 RGD PMID:21924912, PMID:15003812 RGD:7365051, RGD:7365079 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190 		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 PMID:18509235 PMID:24070676, PMID:16087714, PMID:22271321, PMID:18420727, PMID:23116879, PMID:23890015, PMID:23995423, PMID:20047900 RGD:5148024, RGD:8696034, RGD:8696033, RGD:8696032, RGD:8696026, RGD:8695993, RGD:5148032 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996 		JBrowse link
G Cd59 CD59 molecule severity IMP RGD PMID:28212662 RGD:13792592 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621 		JBrowse link
G Cd59em1Ask CD59 molecule; CRISPR/Cas9 induced mutant1, Ask severity IMP RGD PMID:28212662 RGD:13792592
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506 		JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Nefh neurofilament heavy ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557 		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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711 		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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190 		JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        autoimmune disease of the nervous system 447
          autoimmune disease of peripheral nervous system 60
            Guillain-Barre syndrome + 16
            Lambert-Eaton myasthenic syndrome 3
            autoimmune optic neuritis 1
            autoimmune peripheral neuropathy 0
            chronic inflammatory demyelinating polyradiculoneuropathy 3
            myasthenia gravis + 30
            neuromyelitis optica 12
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 0
      Immune & Inflammatory Diseases 3577
        immune system disease 2948
          primary immunodeficiency disease 2364
            autoimmune disease 1683
              autoimmune disease of the nervous system 447
                autoimmune disease of peripheral nervous system 60
                  Guillain-Barre syndrome + 16
                  Lambert-Eaton myasthenic syndrome 3
                  autoimmune optic neuritis 1
                  autoimmune peripheral neuropathy 0
                  chronic inflammatory demyelinating polyradiculoneuropathy 3
                  myasthenia gravis + 30
                  neuromyelitis optica 12
paths to the root