DISEASES

Disease-gene associations mined from literature

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