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Echinobase
Summary Literature (0)
DOID:0090065 - familial cold autoinflammatory syndrome 4

Disease Ontology Definition:A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of 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 heterozygous mutation in the NLRC4 gene on chromosome 2p22.

Synonyms:

Echinobase Genes :



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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): familial cold autoinflammatory syndrome (is_a)