Familial Cold Autoinflammatory Syndrome 3
Disease ID: disease_node_15591
Connections displayed (default: 10).
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| Dbxref | ICD10CM:L50.2, MIM:614468, ORDO:300359 |
|---|---|
| Subclassof | DOID_0050736, DOID_0090061 |
| Data Source | DOID |
| Synonyms | FACU, FCAS3, PLAID, PLCG2-associated antibody deficiency and immune dysregulation, familial atypical cold urticaria, phospholipase C gamma 2-associated antibody deficiency and immune dysregulation |
| Doid Label | familial cold autoinflammatory syndrome 3 |
| Doid Description | A familial cold autoinflammatory syndrome characterized by autosomal domit 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15591 |
| Doid Id | DOID_0090064 |
| Label | Familial Cold Autoinflammatory Syndrome 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Familial Cold Autoinflammatory Syndrome(ID:disease_node_15589) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)