Cinca Syndrome
Disease ID: disease_node_17360
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E85.0, MIM:607115, ORDO:1451 |
|---|---|
| Subclassof | DOID_0050736, DOID_417 |
| Data Source | DOID |
| Synonyms | IOMID syndrome, NOMID syndrome, Prieur-Griscelli syndrome, chronic infantile neurological cutaneous articular syndrome, chronic neurologic cutaneous and articular syndrome, cryopyrin-associated periodic syndrome 3, infantile-onset multisystem inflammatory disease, neonatal-onset multisystem inflammatory disease |
| Doid Label | CINCA Syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17360 |
| Doid Id | DOID_0090029 |
| Label | Cinca Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autoimmune Disease(ID:disease_node_14242) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)