| Metadata | |
|---|---|
| ID | DOID:0090018 |
| Name | autosomal dominant familial periodic fever |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/10199409, https://www.ncbi.nlm.nih.gov/pubmed/7156325, https://www.nomidalliance.org/traps.php |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
familial Hibernian fever [EXACT] FHF [EXACT] FPF [EXACT] hibernian fever [EXACT] TNF receptor associated periodic syndrome [EXACT] TRAPS [EXACT] tumor necrosis factor receptor associated periodic syndrome [EXACT] |
| Parent Relationships |