Term Name: | familial cold autoinflammatory syndrome 3 |
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Synonyms: | |
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 ) |