Human genes for familial cold autoinflammatory syndrome 1
Familial cold autoinflammatory syndrome 1 [DOID:0090062]
A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44.
Synonyms: familial cold autoinflammatory syndrome 1, DOID:0090062, hereditary cold autoinflammatory syndrome 1