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Summary Literature (0)
DOID:0090062 - familial cold autoinflammatory syndrome 1


Disease Ontology Definition:A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44.

Synonyms:

Xenbase Genes : nlrp3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007349 - familial cold autoinflammatory syndrome 1

OMIM:
OMIM:120100 - FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1

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)