Term Name: familial cold autoinflammatory syndrome 3
Synonyms: FACU, familial atypical cold urticaria, FCAS3, phospholipase C gamma 2-associated antibody deficiency and immune dysregulation, PLAID, PLCG2-associated antibody deficiency and immune dysregulation
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.
Ontology: Human Disease [DOID:0090064]   ( DOID:0090064 )

Relationships
is a type of: autosomal dominant disease familial cold autoinflammatory syndrome