{
    "disease_id": "DOID:0090064", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013766", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013766", 
            "name": "familial cold autoinflammatory syndrome type 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013766", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013766", 
            "name": "antibody deficiency and immune dysregulation, PLCG2-associated"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013766", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013766", 
            "name": "plaid"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013766", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013766", 
            "name": "familial cold autoinflammatory syndrome 3; FCAS3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013766", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013766", 
            "name": "familial cold urticaria with common variable immunodeficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013766", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013766", 
            "name": "FACU"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013766", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013766", 
            "name": "PLCG2 familial cold autoinflammatory syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013766", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013766", 
            "name": "familial atypical cold urticaria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013766", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013766", 
            "name": "FCAS3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013766", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013766", 
            "name": "familial cold autoinflammatory syndrome caused by mutation in PLCG2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013766", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013766", 
            "name": "PLCG2-associated antibody deficiency and immune dysregulation"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090064", 
        "description": "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090064", 
        "name": "familial cold autoinflammatory syndrome 3"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090064#disease-associations", 
            "id": "0090064", 
            "database": "Alliance of Genome Resources"
        }
    ]
}