Disease association ontology term - MONDO:0013766 - familial cold autoinflammatory syndrome 3
Term summary
- ID
- MONDO:0013766
- Name
- familial cold autoinflammatory syndrome 3
- Ontology or CV name
- Disease association
- Definition
- A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.
