Mondo Description Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.
Uniprot Description Rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation.
Disease Ontology Description An autoimmune hypersensitivity 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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0090029
GARD:0001356
NCIT:C116380
OMIM:607115
Orphanet:1451
SCTID:239826001
MONDO:0011776
High level summary of knowledge for a disease, including descriptions and datasource references.