autosomal dominant familial periodic fever

Summary

DOID:0090018 - autosomal dominant familial periodic fever

Disease Ontology 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.

Synonyms: 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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tnfrsf1a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007727 - autosomal dominant familial periodic fever

MONDO:0007727 - autosomal dominant familial periodic fever

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), autosomal dominant disease (is_a), primary immunodeficiency disease (is_a)