Familial cold autoinflammatory syndrome 4

Definition

Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.

Also known as familial cold autoinflammatory syndrome 4, familial cold autoinflammatory syndrome caused by mutation in NLRC4, familial cold autoinflammatory syndrome type 4, NLRC4 familial cold autoinflammatory syndrome, NLRC4-related familial cold autoinflammatory syndrome — per MONDO

Also identified as

• DOID 0090065 per MONDO
• OMIM 616115 per MONDO
• Orphanet 576349 per MONDO
• UMLS C4015276 per MONDO