Human genes for familial cold autoinflammatory syndrome 3
Familial cold autoinflammatory syndrome 3 [DOID:0090064]
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.
Synonyms: familial cold autoinflammatory syndrome 3, DOID:0090064, hereditary cold autoinflammatory syndrome 3