Ontology Browser

Term:
familial cold autoinflammatory syndrome 3 (DOID:0090064)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
allergic urticaria 
angioedema +   
Aquagenic Urticaria 
familial cold autoinflammatory syndrome 1  
familial cold autoinflammatory syndrome 2  
familial cold autoinflammatory syndrome 3  
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. (DO)
familial cold autoinflammatory syndrome 4  
Muckle-Wells syndrome  
Papular Urticaria 
physical urticaria +   
Urticaria, Familial Localized Heat 

Synonyms
Exact Synonyms: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED ;   FACU ;   FAMILIAL ATYPICAL COLD URTICARIA ;   FCAS3 ;   PLAID
Primary IDs: OMIM:614468
Alternate IDs: RDO:9000300
Xrefs: ORDO:300359
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/22236196

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.