| Metadata | |
|---|---|
| ID | DOID:0090029 |
| Name | CINCA 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. https://www.nomidalliance.org/nomid.php, https://www.ncbi.nlm.nih.gov/pubmed/7252669, https://www.ncbi.nlm.nih.gov/pubmed/12032915 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
chronic infantile neurological cutaneous articular syndrome [EXACT] chronic neurologic cutaneous and articular syndrome [EXACT] cryopyrin-associated periodic syndrome 3 [EXACT] infantile-onset multisystem inflammatory disease [EXACT] IOMID syndrome [EXACT] neonatal-onset multisystem inflammatory disease [EXACT] NOMID syndrome [EXACT] Prieur-Griscelli syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a autoimmune disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |