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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   acute articular rheumatism
  

Disease ID 858
Disease acute articular rheumatism
Definition
A febrile disease occurring as a delayed sequela of infections with STREPTOCOCCUS PYOGENES. It is characterized by multiple focal inflammatory lesions of the connective tissue structures, such as the heart, blood vessels, and joints (POLYARTHRITIS) and brain, and by the presence of ASCHOFF BODIES in the myocardium and skin.
Synonym
active rheumatic fever
active rheumatic fever (disorder)
acute articular rheumatisms
acute rheumatic arthritides
acute rheumatic arthritis
acute rheumatic arthritis (disorder)
acute rheumatic attack
acute rheumatic fever
acute rheumatic fever (disorder)
acute rheumatic fever nos
acute rheumatic fever nos (disorder)
acute rheumatic fevers
acute rheumatism
arf - acute rheumatic fever
arthritides, acute rheumatic
arthritis, acute rheumatic
arthritis, rheumatic, acute
articular rheumatism, acute
articular rheumatisms, acute
fever, acute rheumatic
fever, rheumatic
fevers, acute rheumatic
fevers, rheumatic
polyarthritis rheumatica
polyarthritis rheumaticas
rheumatic arthritides, acute
rheumatic arthritis
rheumatic arthritis acute
rheumatic arthritis, acute
rheumatic fever
rheumatic fever (disorder)
rheumatic fever [disease/finding]
rheumatic fever, active
rheumatic fever, acute
rheumatic fever, nos
rheumatic fevers
rheumatic fevers, acute
rheumatism acute
rheumatism, acute articular
rheumatism, articular, acute
rheumatism, inflammatory
rheumatisms, acute articular
rhf - rheumatic fever
Orphanet
DOID
UMLS
C0035436
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:25)
C0035439  |  rheumatic heart disease  |  4
C0018799  |  heart disease  |  4
C0026269  |  mitral stenosis  |  3
C0003864  |  arthritis  |  2
C0085278  |  antiphospholipid syndrome  |  2
C0017658  |  glomerulonephritis  |  2
C0022116  |  ischaemia  |  1
C0403414  |  acute post-streptococcal glomerulonephritis  |  1
C0036689  |  streptococcal pharyngitis  |  1
C0003507  |  aortic stenosis  |  1
C0264766  |  rheumatic mitral stenosis  |  1
C0403414  |  post-streptococcal glomerulonephritis  |  1
C0004352  |  autism  |  1
C0027059  |  myocarditis  |  1
C0020538  |  hypertension  |  1
C0014070  |  encephalomyelitis  |  1
C0152113  |  sydenham's chorea  |  1
C0018824  |  cardiac valvular disease  |  1
C0020542  |  pulmonary hypertension  |  1
C0014059  |  acute disseminated encephalomyelitis  |  1
C0042769  |  viral infection  |  1
C0031099  |  periodontitis  |  1
C0042769  |  viral infections  |  1
C0031350  |  pharyngitis  |  1
C0242429  |  sore throat  |  1
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:7)
2212  |  FCGR2A  |  CIPHER
2215  |  FCGR3B  |  CIPHER
3117  |  HLA-DQA1  |  CIPHER
3119  |  HLA-DQB1  |  CIPHER
3123  |  HLA-DRB1  |  CIPHER
7097  |  TLR2  |  CIPHER
7124  |  TNF  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:59)
94  |  ACVRL1  |  1.386  |  DISEASES
8227  |  AKAP17A  |  4.023  |  DISEASES
250  |  ALPP  |  1.401  |  DISEASES
9179  |  AP4M1  |  2.262  |  DISEASES
415  |  ARSE  |  1.118  |  DISEASES
721  |  C4B  |  1.33  |  DISEASES
930  |  CD19  |  1.525  |  DISEASES
959  |  CD40LG  |  3.478  |  DISEASES
926  |  CD8B  |  1.451  |  DISEASES
1029  |  CDKN2A  |  3.374  |  DISEASES
78989  |  COLEC11  |  2.628  |  DISEASES
27042  |  DIEXF  |  2.848  |  DISEASES
29102  |  DROSHA  |  1.075  |  DISEASES
6993  |  DYNLT1  |  1.365  |  DISEASES
1908  |  EDN3  |  1.508  |  DISEASES
55763  |  EXOC1  |  2.421  |  DISEASES
2152  |  F3  |  1.111  |  DISEASES
2219  |  FCN1  |  2.816  |  DISEASES
2638  |  GC  |  1.356  |  DISEASES
51218  |  GLRX5  |  2.009  |  DISEASES
3105  |  HLA-A  |  2.026  |  DISEASES
3106  |  HLA-B  |  1.128  |  DISEASES
3117  |  HLA-DQA1  |  1.798  |  DISEASES
3119  |  HLA-DQB1  |  1.283  |  DISEASES
3120  |  HLA-DQB2  |  1.397  |  DISEASES
3123  |  HLA-DRB1  |  1.745  |  DISEASES
3240  |  HP  |  2.465  |  DISEASES
3329  |  HSPD1  |  1.084  |  DISEASES
219844  |  HYLS1  |  1.163  |  DISEASES
3586  |  IL10  |  1.4  |  DISEASES
3559  |  IL2RA  |  1.154  |  DISEASES
10989  |  IMMT  |  1.214  |  DISEASES
55683  |  KANSL3  |  2.007  |  DISEASES
3778  |  KCNMA1  |  2.64  |  DISEASES
284217  |  LAMA1  |  1.913  |  DISEASES
10747  |  MASP2  |  3.33  |  DISEASES
4153  |  MBL2  |  2.346  |  DISEASES
56955  |  MEPE  |  1.293  |  DISEASES
57591  |  MKL1  |  1.204  |  DISEASES
4312  |  MMP1  |  1.052  |  DISEASES
64359  |  NXN  |  2.067  |  DISEASES
11331  |  PHB2  |  2.795  |  DISEASES
55660  |  PRPF40A  |  2.272  |  DISEASES
6005  |  RHAG  |  1.021  |  DISEASES
80196  |  RNF34  |  1.785  |  DISEASES
6227  |  RPS21  |  2.221  |  DISEASES
6234  |  RPS28  |  2.726  |  DISEASES
348235  |  SKA2  |  3.473  |  DISEASES
83733  |  SLC25A18  |  2.744  |  DISEASES
23443  |  SLC35A3  |  2.277  |  DISEASES
6651  |  SON  |  2.287  |  DISEASES
8801  |  SUCLG2  |  2.17  |  DISEASES
26136  |  TES  |  1.972  |  DISEASES
7124  |  TNF  |  2.244  |  DISEASES
8718  |  TNFRSF25  |  1.189  |  DISEASES
7137  |  TNNI3  |  2.321  |  DISEASES
7139  |  TNNT2  |  1.669  |  DISEASES
23660  |  ZKSCAN5  |  3.439  |  DISEASES
100128252  |  ZNF667-AS1  |  1.726  |  DISEASES
Locus(Waiting for update.)
Disease ID 858
Disease acute articular rheumatism
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:20)
HP:0001718  |  Mitral stenosis  |  3
HP:0000822  |  Hypertension  |  2
HP:0000099  |  Glomerular nephritis  |  2
HP:0001369  |  Arthritis  |  2
HP:0012531  |  Pain  |  2
HP:0001701  |  Pericarditis  |  1
HP:0001650  |  Valvular aortic stenosis  |  1
HP:0002072  |  Chorea  |  1
HP:0002092  |  Pulmonary artery hypertension  |  1
HP:0012722  |  Heart block  |  1
HP:0000717  |  Autism  |  1
HP:0100749  |  Thoracic pain  |  1
HP:0100584  |  Endocarditis  |  1
HP:0001709  |  Complete heart block  |  1
HP:0000707  |  Neurological abnormality  |  1
HP:0000704  |  Pyorrhea  |  1
HP:0200025  |  Mandibular pain  |  1
HP:0000939  |  Osteoporosis  |  1
HP:0005110  |  Atrial fibrillation  |  1
HP:0012819  |  Myocarditis  |  1
Disease ID 858
Disease acute articular rheumatism
Manually Symptom
UMLS  | Name(Total Manually Symptoms:4)
C2707258  |  infections
C2364133  |  infection
C1963101  |  encephalopathy
C0038325  |  stevens-johnson syndrome
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:9)
C0869523  |  carditis  |  7
C0009450  |  infection  |  4
C0018799  |  heart disease  |  2
C0003864  |  arthritis  |  2
C0042769  |  viral infection  |  1
C0752303  |  urological manifestation  |  1
C0038395  |  streptococcal infections  |  1
C0027059  |  myocarditis  |  1
C0008489  |  chorea  |  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
rs5743708159685367097TLR2umls:C0035436BeFreeTLR-2 gene Arg753Gln polymorphism is strongly associated with acute rheumatic fever in children.0.0056342662005TLR24153705165GA
rs5743708196936437097TLR2umls:C0035436BeFreeToll-like receptor 2 (TLR2) has been known to recognize several microbial antigens including that of streptococci, and TLR2 gene Arg753Gln polymorphism has been reported to be strongly associated with acute rheumatic fever with an odds ratio of 100.0.0056342662009TLR24153705165GA
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 858
Disease acute articular rheumatism
Case(Waiting for update.)