Human genes for autosomal dominant familial periodic fever
Autosomal dominant familial periodic fever [DOID:0090018]
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.
Synonyms: autosomal dominant familial periodic fever, autosomal dominant hereditary periodic fever, autosomal dominant familial periodic fevers, DOID:0090018, familial Hibernian fever ...