Search Ontology:
Human Disease
autosomal dominant familial periodic fever
- Term ID
- DOID:0090018
- Synonyms
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- familial Hibernian fever
- FHF
- FPF
- hibernian fever
- TNF receptor associated periodic syndrome
- TRAPS
- 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. (3)
- References
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- GARD:8457
- ICD10CM:E85.0
- MIM:142680
- ORDO:32960
- Ontology
- Human Disease ( DOID:0090018 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models