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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
Xrefs

GARD:8457

ICD10CM:E85.0

OMIM:142680

ORDO:32960

Synonyms

familial Hibernian fever [EXACT]

TNF receptor 1-associated periodic syndrome [EXACT]

tumor necrosis factor receptor 1 associated periodic syndrome [EXACT]

Parent Relationships

is_a primary immunodeficiency disease

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