familial cold autoinflammatory syndrome 4

Summary

DOID:0090065 - familial cold autoinflammatory syndrome 4

Disease Ontology Definition:A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: nlrc4

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014498 - familial cold autoinflammatory syndrome 4

MONDO:0014498 - familial cold autoinflammatory syndrome 4

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), familial cold autoinflammatory syndrome (is_a)