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autosomal dominant familial periodic fever
Summary
- Synonym
-
- FHF
- FPF
- TNF receptor associated periodic syndrome
- TRAPS
- familial Hibernian fever
- hibernian fever
- tumor necrosis factor receptor associated periodic syndrome
- 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.
- Super Class
- autosomal dominant disease primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0090018
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
