familial cold autoinflammatory syndrome 3 (DOID:0090064)
Alliance: disease page
Alt IDs: OMIM:614468, ICD10CM:L50.2, ORDO:300359
Definition: A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q.