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
Accession: DOID:12842
browse the term
Definition: An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. (DO)
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; acute inflammatory demyelinating polyneuropathy
primary_id: MESH:D020275
alt_id: MIM:139393
xref: EFO:0007292 ; GARD:6554 ; NCI:C116345
For additional species annotation, visit the
Alliance of Genome Resources .
G
Aire
autoimmune regulator
ISS
OMIM:139393
MouseDO
NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
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
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
G
Cd86
CD86 molecule
ISS
OMIM:139393
MouseDO
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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
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
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
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
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:20516806 PMID:21149811 PMID:21252112 PMID:23965407 PMID:25429913 PMID:25741868 PMID:26392352 PMID:26467025 PMID:28286897 PMID:28492532 PMID:28981955 PMID:29653220 PMID:31393079 PMID:32538861 PMID:32719652 PMID:35027655 More...
NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
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