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autosomal dominant familial periodic fever

Disease Summary
Associated Targets (6)
Tchem

3

Tbio

3


Explore Associated Targets
Mondo Description Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.
Uniprot Description A hereditary periodic fever syndrome characterized by recurrent fever, abdominal pain, localized tender skin lesions and myalgia. Reactive amyloidosis is the main complication and occurs in 25% of cases.
Disease Ontology Description An autosomal dominant disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13.
Mondo Term and Equivalent IDs
MONDO:0007727:  autosomal dominant familial periodic fever
GARD:0008457: 
MESH:C536657: 
NCIT:C119051: 
Orphanet:32960: 
SCTID:403833009: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)