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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   spondylarthropathy
  

Disease ID 1131
Disease spondylarthropathy
Definition
degeneration of the spinal bone where spinal columns are fused and immobilized
Synonym
bechterew syndrome
disorder of joint of spine
disorder of joint of spine (disorder)
spondarthropathy
spondylarthropathies
spondylarthropathies [disease/finding]
spondylarthrosis
spondylarthrosis nos
spondylarthrosis, nos
spondyloarthropathies
spondyloarthropathy (disorder)
spondyloarthrosis
syndrome, bechterew
OMIM
DOID
UMLS
C0949691
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:15)
C0042164  |  uveitis  |  3
C0003872  |  psoriatic arthritis  |  2
C0035435  |  rheumatic disease  |  1
C0020502  |  hyperparathyroidism  |  1
C0042769  |  virus infection  |  1
C0020877  |  ileitis  |  1
C0004623  |  bacterial infection  |  1
C0021053  |  immune disease  |  1
C0021831  |  bowel disease  |  1
C0042165  |  anterior uveitis  |  1
C0003864  |  arthritis  |  1
C0021390  |  inflammatory bowel disease  |  1
C0701807  |  acute anterior uveitis  |  1
C0004623  |  bacterial infections  |  1
C0029464  |  osteosclerosis  |  1
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:13)
3105  |  HLA-A  |  CIPHER
3106  |  HLA-B  |  CIPHER
100507436  |  MICA  |  CIPHER
1493  |  CTLA4  |  CIPHER
1586  |  CYP17A1  |  CIPHER
355  |  FAS  |  CIPHER
3107  |  HLA-C  |  CIPHER
3122  |  HLA-DRA  |  CIPHER
3303  |  HSPA1A  |  CIPHER
3304  |  HSPA1B  |  CIPHER
3305  |  HSPA1L  |  CIPHER
5696  |  PSMB8  |  CIPHER
5698  |  PSMB9  |  CIPHER
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1131
Disease spondylarthropathy
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:10)
HP:0000554  |  Uveitis  |  3
HP:0001369  |  Arthritis  |  1
HP:0002960  |  Autoimmune condition  |  1
HP:0030833  |  Neck pain  |  1
HP:0002721  |  Immunodeficiency  |  1
HP:0011001  |  Increased bone mineral density  |  1
HP:0012122  |  Anterior uveitis  |  1
HP:0000843  |  Hyperparathyroidism  |  1
HP:0000938  |  Decreased bone mineral density  |  1
HP:0012531  |  Pain  |  1
Disease ID 1131
Disease spondylarthropathy
Manually Symptom
UMLS  | Name(Total Manually Symptoms:11)
C1843274  |  acute tubulointerstitial nephritis
C1282952  |  enthesitis
C0748159  |  pulmonary involvement
C0701807  |  acute anterior uveitis
C0574960  |  sacroiliitis
C0409207  |  arthritis of the hip
C0231780  |  heel pain
C0158026  |  monarthritis
C0039103  |  synovitis
C0021390  |  inflammatory bowel disease
C0020877  |  ileitis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:4)
C0042164  |  uveitis  |  3
C0020877  |  ileitis  |  1
C0021390  |  inflammatory bowel disease  |  1
C0009450  |  infection  |  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
rs4986790165673597099TLR4umls:C0949691BeFreeLack of genetic association of the Toll-like receptor 4 (TLR4) Asp299Gly and Thr399Ile polymorphisms with spondylarthropathies in a Hungarian population.0.0002714422006TLR49117713024AG
rs4986791165673597099TLR4umls:C0949691BeFreeLack of genetic association of the Toll-like receptor 4 (TLR4) Asp299Gly and Thr399Ile polymorphisms with spondylarthropathies in a Hungarian population.0.0002714422006TLR49117713324CT
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 1131
Disease spondylarthropathy
Case(Waiting for update.)