Metadata | |
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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 | |
Synonyms |
FCAS2 [EXACT] NLRP12-associated hereditary periodic fever syndrome [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |