Term Name: | familial cold autoinflammatory syndrome 1 |
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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 ) |