ZFIN Human Disease: autosomal dominant familial periodic fever

OBO ID: DOID:0090018

Term Name:	autosomal dominant familial periodic fever		Search Ontology:
Synonyms:	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:	GARD:8457 ICD10CM:E85.0 OMIM:142680 ORDO:32960
Ontology:	Human Disease ( DOID:0090018 )

Relationships

is a type of:	autosomal dominant disease primary immunodeficiency disease autosomal dominant disease primary immunodeficiency disease Show first 5 Terms

OTHER autosomal dominant familial periodic fever PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TNFRSF1A	tnfrsf1a	Periodic fever, familial	142680

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None