Familial Cold Autoinflammatory Syndrome 4
Disease ID: disease_node_15590
Connections displayed (default: 10).
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| Dbxref | ICD10CM:L50.2, MIM:616115, ORDO:47045 |
|---|---|
| Subclassof | DOID_0050736, DOID_0090061 |
| Data Source | DOID |
| Synonyms | FCAS4 |
| Doid Label | familial cold autoinflammatory syndrome 4 |
| Doid Description | A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal domit inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15590 |
| Doid Id | DOID_0090065 |
| Label | Familial Cold Autoinflammatory Syndrome 4 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Familial Cold Autoinflammatory Syndrome(ID:disease_node_15589) (Disease)