About   Help   FAQ
Disease Ontology Browser
familial cold autoinflammatory syndrome 3 (DOID:0090064)
Alliance: disease page
Synonyms: FACU; familial atypical cold urticaria; FCAS3; phospholipase C gamma 2-associated antibody deficiency and immune dysregulation; PLAID; PLCG2-associated antibody deficiency and immune dysregulation
Alt IDs: OMIM:614468, ICD10CM:L50.2, ORDO:300359
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory