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DOID:0090018 - autosomal dominant familial periodic fever
Disease Ontology Definition:A characterized by autosomal dominant inheritance of 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: TNF receptor 1-associated periodic syndrome, familial hibernian fever, tumor necrosis factor receptor 1 associated periodic syndrome,
Echinobase Genes :
MIM:142680 - periodic fever, familial, autosomal dominant |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autoimmune disease (is_a)