OBO ID: DOID:0090063
Term Name: familial cold autoinflammatory syndrome 2 Search Ontology:
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:
Ontology: Human Disease   ( DOID:0090063 )
OTHER familial cold autoinflammatory syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NLRP12 Familial cold autoinflammatory syndrome 2
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None