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Summary Literature (0)
DOID:0090029 - CINCA Syndrome


Disease Ontology Definition:An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q.

Synonyms: IOMID syndrome, NOMID syndrome, Prieur-Griscelli syndrome, chronic infantile neurological cutaneous articular syndrome, chronic neurologic cutaneous and articular syndrome, cryopyrin-associated periodic syndrome 3, infantile-onset multisystem inflammatory disease, neonatal-onset multisystem inflammatory disease

Xenbase Genes : nlrp3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011776 - CINCA syndrome

OMIM:
OMIM:607115 - CINCA SYNDROME; CINCA

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autoimmune disease (is_a), autosomal dominant disease (is_a)