CINCA Syndrome

Summary

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

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

: nlrp3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011776 - CINCA syndrome

MONDO:0011776 - CINCA syndrome

Other Model Organisms: Alliance, 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)