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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:Guillain-Barre syndrome
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Accession:DOID:12842 term browser browse the term
Definition:An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
Synonyms:exact_synonym: Acute Autoimmune Neuropathy;   Acute Infectious Polyneuritis;   Acute Inflammatory Demyelinating Polyradiculoneuropathy;   Acute Inflammatory Polyneuropathies;   Acute Inflammatory Polyneuropathy;   Acute Inflammatory Polyradiculoneuropathies;   Acute Inflammatory Polyradiculoneuropathy;   GBS;   Guillain-Barre Syndrome, Familial;   Guillain-Barré Syndrome;   Guillaine Barre Syndrome;   Inflammatory Polyneuropathy Acutes;   Landry Guillain Barre Syndrome;   acute autoimmune neuropathies;   acute infective polyneuritis;   acute inflammatory demyelinating polyradiculopathy;   acute postinfectious polyneuropathy;   infectious neuronitis;   post-infectious polyneuritis;   postinfectious polyneuritis
 narrow_synonym: AIDP POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, CHRONIC;   CIDP;   POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, ACUTE
 primary_id: MESH:D020275
 alt_id: OMIM:139393
 xref: GARD:6554;   NCI:C116345
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Guillain-Barre syndrome 16
        Miller Fisher syndrome 0
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Immune & Inflammatory Diseases 3511
        immune system disease 2931
          primary immunodeficiency disease 2348
            autoimmune disease 1670
              autoimmune disease of the nervous system 414
                polyradiculoneuropathy 19
                  Guillain-Barre syndrome 16
                    Miller Fisher syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.