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Summary Literature (0)
DOID:0090018 - TNF receptor–associated periodic syndrome


Disease Ontology Definition:An autoinflammatory 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.

Synonyms: autosomal dominant familial periodic fever, familial hibernian fever, familial Hibernian fever, FHF, FPF, hibernian fever, TNF receptor 1-associated periodic syndrome, TNF receptor associated periodic syndrome, TRAPS, tumor necrosis factor receptor 1 associated periodic syndrome, tumor necrosis factor receptor associated periodic syndrome

Xenbase Genes : tnfrsf1a

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007727 - interphalangeal joint of pedal digit 4

MIM:
MIM:142680 - PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT; FPF

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autoimmune disease (is_a), autoinflammatory disease (is_a), autosomal dominant disease (is_a), primary immunodeficiency disease (is_a)