Term Name: familial cold autoinflammatory syndrome 1
Synonyms: FCAS1
Definition: A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44.
Ontology: Human Disease [DOID:0090062]   ( DOID:0090062 )

Relationships
is a type of: autosomal dominant disease familial cold autoinflammatory syndrome