{
    "disease_id": "DOID:0080594",
    "recommended_name": {
        "id": "DOID:0080594",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080594",
        "name": "hyper IgE recurrent infection syndrome 2",
        "description": "A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24."
    },
    "synonyms": [
        {
            "id": "DOID:0080594",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080594",
            "name": "autosomal recessive hyper-IgE syndrome 2 with recurrent infections",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "combined immunodeficiency due to DOCK8 deficiency",
            "description": "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)."
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "Cid due to DOCK8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "DOCK8 immunodeficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "combined immunodeficiency due to DOCK8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "dedicator of cytokinesis 8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "AR hyperimmunoglobulin E syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "AR-HIES",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "DOCK8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "HIES autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "autosomal recessive hyper IgE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "hyper Ig E syndrome, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:243700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/243700",
            "name": "Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections",
            "description": "Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080594"
    ],
    "unlinked_id_list": []
}