| Metadata | |
|---|---|
| ID | DOID:0090064 |
| Name | familial cold autoinflammatory syndrome 3 |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
FACU [EXACT] familial atypical cold urticaria [EXACT] FCAS3 [EXACT] phospholipase C gamma 2-associated antibody deficiency and immune dysregulation [EXACT] PLAID [EXACT] PLCG2-associated antibody deficiency and immune dysregulation [EXACT] |
| Parent Relationships |