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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   eosinophilia-myalgia syndrome
  

Disease ID 878
Disease eosinophilia-myalgia syndrome
Definition
A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include EOSINOPHILIA, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn WD, Semin Arthritis Rheum 1997 Jun;26(6):788-93)
Synonym
ems - eosinophilia myalgia syndrome
eosinophilia myalgia snd
eosinophilia myalgia syndrome
eosinophilia myalgia syndrome (disorder)
eosinophilia-myalgia syndrome [disease/finding]
eosinophilia-myalgia syndromes
syndrome, eosinophilia-myalgia
syndromes, eosinophilia-myalgia
DOID
UMLS
C0085179
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:1)
C1527383  |  morphea  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
3123  |  HLA-DRB1  |  CTD_human
3117  |  HLA-DQA1  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:16)
1325  |  CORT  |  2.083  |  DISEASES
1490  |  CTGF  |  1.953  |  DISEASES
1565  |  CYP2D6  |  1.201  |  DISEASES
1969  |  EPHA2  |  1.621  |  DISEASES
3106  |  HLA-B  |  1.349  |  DISEASES
3117  |  HLA-DQA1  |  1.444  |  DISEASES
3123  |  HLA-DRB1  |  1.031  |  DISEASES
3351  |  HTR1B  |  1.824  |  DISEASES
3359  |  HTR3A  |  1.574  |  DISEASES
3360  |  HTR4  |  1.99  |  DISEASES
3363  |  HTR7  |  1.907  |  DISEASES
3684  |  ITGAM  |  1.035  |  DISEASES
102723508  |  KANTR  |  1.461  |  DISEASES
6280  |  S100A9  |  1.733  |  DISEASES
8718  |  TNFRSF25  |  1.822  |  DISEASES
7223  |  TRPC4  |  2.958  |  DISEASES
Locus(Waiting for update.)
Disease ID 878
Disease eosinophilia-myalgia syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:1)
HP:0012344  |  Morphea  |  1
Disease ID 878
Disease eosinophilia-myalgia syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:11)
C1963220  |  pulmonary hypertension
C0442874  |  neuropathy
C0270922  |  demyelinating polyneuropathy
C0270921  |  axonal neuropathy
C0263518  |  telogen effluvium
C0162855  |  mucinosis
C0037090  |  pulmonary symptoms
C0031117  |  peripheral neuropathy
C0026848  |  myopathy
C0015645  |  fasciitis
C0006664  |  calcinosis cutis
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
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 878
Disease eosinophilia-myalgia syndrome
Case(Waiting for update.)