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Metadata
ID DOID:0090063
Name familial cold autoinflammatory syndrome 2
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
Xrefs

MESH:C567090

OMIM:611762

Synonyms

NLRP12-associated hereditary periodic fever syndrome [EXACT]

Parent Relationships

is_a familial cold autoinflammatory syndrome

is_a autosomal dominant disease

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