. "OMIM:142680"^^ . "ICD10CM:E85.0"^^ . _:vb50942062 . "GARD:8457"^^ . "tumor necrosis factor receptor 1 associated periodic syndrome"@en . "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."^^ . _:vb50942062 . . "disease_ontology"^^ . _:vb50942062 . "DOID:0090018"^^ . . _:vb50942062 . _:vb50942062 . "TNF receptor 1-associated periodic syndrome"@en . . "ORDO:32960"^^ . "familial Hibernian fever"@en . "autosomal dominant familial periodic fever"^^ .