Metadata | |
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ID | DOID:0090065 |
Name | familial cold autoinflammatory syndrome 4 |
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 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
FCAS4 [EXACT] |
Parent Relationships |