familial cold autoinflammatory syndrome 4

Term ID

DOID:0090065

Synonyms

Definition

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 dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22. https://www.ncbi.nlm.nih.gov/pubmed/25385754

References

• ICD10CM:L50.2
• OMIM:616115
• ORDO:47045

Ontology

Human Disease   ( DOID:0090065 )