OBO ID: DOID:0090064
Term Name: familial cold autoinflammatory syndrome 3 Search Ontology:
Synonyms:
Definition: A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q. https://www.ncbi.nlm.nih.gov/pubmed/22236196
References:
Ontology: Human Disease   (DOID:0090064)
OTHER familial cold autoinflammatory syndrome 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLCG2 Familial cold autoinflammatory syndrome 3 614468
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None