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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


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 chain severity ISO RGD PMID:23316360 RGD:27226805 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		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 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:sciatic nerve (mouse) RGD PMID:19050296 RGD:4890012 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:sural nerve RGD PMID:10408538 RGD:13204856 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		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
ISS		 DNA:frameshift mutation, missense mutations (human)
ClinVar Annotator: match by term: Familial infantile myasthenia
OMIM:254210
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12609506 More... RGD:1600831 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar PMID:21948486 PMID:25741868 PMID:28492532 NCBI chr16:7,713,630...7,716,491 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC ClinVar PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		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 chr13:64,904,504...64,913,413
Ensembl chr13:64,887,136...64,913,410 		JBrowse link
G C3 complement C3 ISO
IEP		 RGD PMID:17962462 PMID:147324 RGD:7401263, RGD:11040804 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C6 complement C6 susceptibility IAGP RGD PMID:17034580 RGD:1600670 NCBI chr 2:53,846,028...53,921,279
Ensembl chr 2:53,851,985...53,921,275 		JBrowse link
G Cd40lg CD40 ligand treatment IMP RGD PMID:11359850 RGD:8547800 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cfb complement factor B treatment IMP RGD PMID:25355917 RGD:11041161 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit treatment ISO RGD PMID:10606626 RGD:704386 NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Ctsl cathepsin L IEP mRNA:increased expression:quadriceps (rat) RGD PMID:16365386 RGD:2315588 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 IMP
IEP		 RGD PMID:19232748 PMID:15843529 RGD:2311364, RGD:1598501 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 IEP RGD PMID:15843529 RGD:1598501 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435 		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:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Il15 interleukin 15 IEP protein:increased expression:skeletal muscle RGD PMID:11585642 RGD:1626617 NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820 		JBrowse link
G Il23r interleukin 23 receptor IEP mRNA:increased expression:lymph node RGD PMID:21193288 RGD:5108250 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha IDA RGD PMID:18250419 RGD:2325986 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697 		JBrowse link
G Il4r interleukin 4 receptor IEP protein:increased expression:skeletal muscle RGD PMID:19395316 RGD:4889981 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Musk muscle associated receptor tyrosine kinase IDA RGD PMID:17081697 RGD:2317084 NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932 		JBrowse link
G Myog myogenin IEP RGD PMID:1312030 RGD:9686077 NCBI chr13:45,745,455...45,748,044
Ensembl chr13:45,745,436...45,748,039 		JBrowse link
G Rapsn receptor-associated protein of the synapse IEP protein:decreased expression:neuromuscular junction RGD PMID:19344765 RGD:8549750 NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373 		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 chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060 		JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:18343991 RGD:5685658 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 disease_progression ISO protein:increased expression:plasma (human) RGD PMID:12507779 RGD:8549645 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cd86 CD86 molecule ISS OMIM:139393 MouseDO NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Cst3 cystatin C ISO protein:decreased expression:cerebrospinal fluid RGD PMID:11134381 RGD:5686395 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:cerebrospinal fluid RGD PMID:11134381 RGD:5686395 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO RGD PMID:15623725 RGD:1600925 NCBI chr10:85,689,979...85,691,214
Ensembl chr10:85,689,465...85,691,210 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Guillain-Barre syndrome, familial		 OMIM
CTD
ClinVar		 PMID:12402337 PMID:25741868 PMID:26392352 PMID:26467025 PMID:28492532 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714 		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
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 chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651 		JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphisms:cds:p.R16G,Q27E(human) RGD PMID:10606977 RGD:8548470 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Cfb complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:6605118 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		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
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:15843529 RGD:1598501 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15843529 RGD:1598501 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 ISO ClinVar Annotator: match by term: refractory myasthenia gravis ClinVar PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926 NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:15661863 RGD:5509039 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:peripheral blood, T lymphocyte (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15169653 PMID:23043710 RGD:8662430 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		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 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054 		JBrowse link
G Musk muscle associated receptor tyrosine kinase treatment
severity		 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (human)		 CTD
RGD		 PMID:22981737 PMID:27119269 PMID:22218276 PMID:26025053 RGD:38599166, RGD:38599165 NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4323972 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp: cds: 1858T RGD PMID:19693092 RGD:6484722 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		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 chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17956852 NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618 		JBrowse link
G Zscan25 zinc finger and SCAN domain containing 25 ISO ClinVar Annotator: match by term: refractory myasthenia gravis ClinVar PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926 NCBI chr12:9,327,347...9,338,206
Ensembl chr12:9,326,404...9,338,221 		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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        autoimmune disease of the nervous system 672
          autoimmune disease of peripheral nervous system 66
            Guillain-Barre syndrome + 16
            Lambert-Eaton myasthenic syndrome 3
            autoimmune optic neuritis 1
            autoimmune peripheral neuropathy 0
            chronic inflammatory demyelinating polyradiculoneuropathy 3
            myasthenia gravis + 34
            neuromyelitis optica 14
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Immune & Inflammatory Diseases 5566
        immune system disease 4773
          primary immunodeficiency disease 4146
            autoimmune disease 2321
              autoimmune disease of the nervous system 672
                autoimmune disease of peripheral nervous system 66
                  Guillain-Barre syndrome + 16
                  Lambert-Eaton myasthenic syndrome 3
                  autoimmune optic neuritis 1
                  autoimmune peripheral neuropathy 0
                  chronic inflammatory demyelinating polyradiculoneuropathy 3
                  myasthenia gravis + 34
                  neuromyelitis optica 14
paths to the root