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familial cold autoinflammatory syndrome 3
Summary
- 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.
- Super Class
- autosomal dominant disease familial cold autoinflammatory syndrome
External Links
- Disease Ontology
- DOID:0090064
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16885 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011971 | Dermatographic urticaria |
| HP:0001045 | Vitiligo |
| HP:0012393 | Allergy |
| HP:0003193 | Allergic rhinitis |
| HP:0000872 | Hashimoto thyroiditis |
| HP:0010783 | Erythema |
