autosomal dominant familial periodic fever (DOID:0090018)
Alliance: disease page
Synonyms: familial Hibernian fever; TNF receptor 1-associated periodic syndrome; tumor necrosis factor receptor 1 associated periodic syndrome
Alt IDs: OMIM:142680, ICD10CM:E85.0, ORDO:32960
Definition: A primary immunodeficiency 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.