Term Name: | CINCA Syndrome |
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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 |
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. |
Ontology: | Human Disease [DOID:0090029] ( DOID:0090029 ) |