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| Term | CINCA Syndrome | ID (Ontology) | DOID:0090029 (Human Disease) |
| 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. | ||
| Also Known As | "chronic infantile neurological cutaneous articular syndrome" ; "chronic neurologic cutaneous and articular syndrome" ; "cryopyrin-associated periodic syndrome 3" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ immune system disease | |__autoimmune disease__________| CINCA Syndrome |
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| Is a |
autosomal dominant disease autoimmune disease |
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ICD10CM:E85.0 MIM:607115 ORDO:1451 |
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