{
    "disease_id": "DOID:0090064",
    "recommended_name": {
        "id": "DOID:0090064",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090064",
        "name": "familial cold autoinflammatory syndrome 3",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0090064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090064",
            "name": "phospholipase C gamma 2-associated antibody deficiency and immune dysregulation",
            "description": ""
        },
        {
            "id": "DOID:0090064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090064",
            "name": "FACU",
            "description": ""
        },
        {
            "id": "DOID:0090064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090064",
            "name": "FCAS3",
            "description": ""
        },
        {
            "id": "DOID:0090064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090064",
            "name": "PLAID",
            "description": ""
        },
        {
            "id": "DOID:0090064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090064",
            "name": "familial atypical cold urticaria",
            "description": ""
        },
        {
            "id": "DOID:0090064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090064",
            "name": "PLCG2-associated antibody deficiency and immune dysregulation",
            "description": ""
        },
        {
            "id": "MONDO:0013766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013766",
            "name": "familial cold autoinflammatory syndrome 3",
            "description": "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."
        },
        {
            "id": "MONDO:0013766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013766",
            "name": "FACU",
            "description": ""
        },
        {
            "id": "MONDO:0013766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013766",
            "name": "PLAID",
            "description": ""
        },
        {
            "id": "MONDO:0013766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013766",
            "name": "PLCG2 familial cold autoinflammatory syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013766",
            "name": "familial atypical cold urticaria",
            "description": ""
        },
        {
            "id": "MONDO:0013766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013766",
            "name": "familial cold autoinflammatory syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013766",
            "name": "familial cold autoinflammatory syndrome caused by mutation in PLCG2",
            "description": ""
        },
        {
            "id": "MONDO:0013766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013766",
            "name": "familial cold autoinflammatory syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013766",
            "name": "familial cold urticaria with common variable immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013766",
            "name": "plaid",
            "description": ""
        },
        {
            "id": "MONDO:0013766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013766",
            "name": "FCAS3",
            "description": ""
        },
        {
            "id": "MIM:614468",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614468",
            "name": "Familial cold autoinflammatory syndrome 3",
            "description": "Familial cold autoinflammatory syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090064"
    ],
    "unlinked_id_list": []
}