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Metadata
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

ICD10CM:L50.2

OMIM:616115

ORDO:47045

Subsets

DO_rare_slim

Parent Relationships

is_a familial cold autoinflammatory syndrome

is_a autosomal dominant disease

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