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DOID:0090064 - familial cold autoinflammatory syndrome 3
Disease Ontology 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.
Synonyms:
Echinobase Genes :
MIM:614468 - familial cold autoinflammatory syndrome 3; fcas3 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee