familial cold autoinflammatory syndrome 2

Term ID

DOID:0090063

Synonyms

• NLRP12-associated hereditary periodic fever syndrome

Definition

A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/18230725

References

• MESH:C567090
• OMIM:611762

Ontology

Human Disease   ( DOID:0090063 )