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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   relapsing fever
  

Disease ID 737
Disease relapsing fever
Definition
An acute infection characterized by recurrent episodes of PYREXIA alternating with asymptomatic intervals of apparent recovery. This condition is caused by SPIROCHETES of the genus BORRELIA. It is transmitted by the BITES of either the body louse (PEDICULUS humanus corporis), for which humans are the reservoir, or by soft ticks of the genus ORNITHODOROS, for which rodents and other animals are the principal reservoirs.
Synonym
[x]relapsing fever, unspecified
[x]relapsing fever, unspecified (disorder)
fever recurrent
fever relapsing
fever, famine
fever, relapsing
fevers recurrent
fevers, relapsing
recurrent fever
recurrent fever due to borrelia
recurrent fever, nos
relapsing fever (disorder)
relapsing fever [disease/finding]
relapsing fever [dup] (disorder)
relapsing fever due to borrelia
relapsing fever nos
relapsing fever nos (disorder)
relapsing fever, nos
relapsing fever, unspecified
relapsing fevers
Orphanet
DOID
ICD10
UMLS
C0035021
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:12)
C0035022  |  tick-borne relapsing fever  |  14
C0040425  |  tonsillitis  |  2
C0015230  |  rash  |  2
C0080151  |  saids  |  1
C0878675  |  erdheim-chester disease  |  1
C0029443  |  osteomyelitis  |  1
C1417508  |  mevalonic aciduria  |  1
C0032285  |  pneumonitis  |  1
C0021400  |  influenza  |  1
C0042109  |  urticarial  |  1
C0022408  |  arthropathy  |  1
C0001768  |  agammaglobulinemia  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:35)
159  |  ADSS  |  2.693  |  DISEASES
11214  |  AKAP13  |  3.991  |  DISEASES
57016  |  AKR1B10  |  1.694  |  DISEASES
340075  |  ARSI  |  3.952  |  DISEASES
7917  |  BAG6  |  1.941  |  DISEASES
721  |  C4B  |  3.384  |  DISEASES
959  |  CD40LG  |  1.771  |  DISEASES
1447  |  CSN2  |  1.744  |  DISEASES
51428  |  DDX41  |  2.287  |  DISEASES
1810  |  DR1  |  2.072  |  DISEASES
9846  |  GAB2  |  1.883  |  DISEASES
3329  |  HSPD1  |  2.394  |  DISEASES
5654  |  HTRA1  |  1.676  |  DISEASES
3586  |  IL10  |  2.336  |  DISEASES
92399  |  MRRF  |  2.476  |  DISEASES
57380  |  MRS2  |  3.227  |  DISEASES
4519  |  MT-CYB  |  1.303  |  DISEASES
140767  |  NRSN1  |  7.376  |  DISEASES
5158  |  PDE6B  |  1.477  |  DISEASES
5478  |  PPIA  |  1.456  |  DISEASES
5813  |  PURA  |  4.012  |  DISEASES
5814  |  PURB  |  5.131  |  DISEASES
5888  |  RAD51  |  2.054  |  DISEASES
23221  |  RHOBTB2  |  2.756  |  DISEASES
6231  |  RPS26  |  2.748  |  DISEASES
51750  |  RTEL1  |  1.814  |  DISEASES
862  |  RUNX1T1  |  1.387  |  DISEASES
25870  |  SUMF2  |  2.516  |  DISEASES
6892  |  TAPBP  |  1.969  |  DISEASES
50945  |  TBX22  |  3.258  |  DISEASES
7072  |  TIA1  |  1.182  |  DISEASES
7124  |  TNF  |  2.109  |  DISEASES
7133  |  TNFRSF1B  |  1.433  |  DISEASES
51592  |  TRIM33  |  1.388  |  DISEASES
9278  |  ZBTB22  |  1.89  |  DISEASES
Locus(Waiting for update.)
Disease ID 737
Disease relapsing fever
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:19)
HP:0011110  |  Inflammation of tonsils  |  2
HP:0012531  |  Pain  |  2
HP:0002829  |  Arthralgias  |  1
HP:0002373  |  Febrile convulsions  |  1
HP:0004432  |  Agammaglobulinaemia  |  1
HP:0012735  |  Coughing  |  1
HP:0002716  |  Lymph node hyperplasia  |  1
HP:0000873  |  Diabetes insipidus  |  1
HP:0002754  |  Bone infection  |  1
HP:0012072  |  Aciduria  |  1
HP:0002046  |  Heat intolerance  |  1
HP:0001944  |  Dehydration  |  1
HP:0100963  |  Hyperesthesia  |  1
HP:0000010  |  Frequent urinary tract infections  |  1
HP:0045073  |  Serositis  |  1
HP:0003040  |  Arthropathy  |  1
HP:0001250  |  Seizures  |  1
HP:0100749  |  Thoracic pain  |  1
HP:0003326  |  Muscle pain  |  1
Disease ID 737
Disease relapsing fever
Manually Symptom
UMLS  | Name(Total Manually Symptoms:5)
C0235031  |  neurologic symptoms
C0042928  |  vocal cord paralysis
C0040034  |  thrombocytopenia
C0026827  |  hypotonia
C0004610  |  bacteremia
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0004610  |  bacteremia  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:2)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs28940578158057194210MEFVumls:C0035021BeFreeHere, we report a Japanese female FMF patient with heterozygosity for the compound pyrin E148Q/M694I showing recurrent fever, serositis or delay in skin wound healing.0.0008143262005MEFV163243405CT
rs3743930158057194210MEFVumls:C0035021BeFreeHere, we report a Japanese female FMF patient with heterozygosity for the compound pyrin E148Q/M694I showing recurrent fever, serositis or delay in skin wound healing.0.0008143262005MEFV163254626CG
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 737
Disease relapsing fever
Case(Waiting for update.)