Human genes for familial cold autoinflammatory syndrome 2
Familial cold autoinflammatory syndrome 2 [DOID:0090063]
A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13.
Synonyms: familial cold autoinflammatory syndrome 2, DOID:0090063, hereditary cold autoinflammatory syndrome 2, NLRP12-associated hereditary periodic fever syndrome, NLRP12associated hereditary periodic fever syndrome ...