{
    "disease_id": "DOID:12704",
    "recommended_name": {
        "id": "DOID:12704",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:12704",
        "name": "ataxia telangiectasia",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22."
    },
    "synonyms": [
        {
            "id": "DOID:12704",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:12704",
            "name": "Boder-Sedgwick syndrome",
            "description": ""
        },
        {
            "id": "DOID:12704",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:12704",
            "name": "Louis Bar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "ataxia telangiectasia",
            "description": "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer."
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "Louis Bar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "Louis-Bar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "ataxia - telangiectasia",
            "description": ""
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "ataxia telangiectasia",
            "description": ""
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "ataxia telangiectasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "boder-Sedgwick syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "AT",
            "description": ""
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "AT, complementation group A",
            "description": ""
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "AT, complementation group C",
            "description": ""
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "AT, complementation group D",
            "description": ""
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "AT, complementation group E",
            "description": ""
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "AT1",
            "description": ""
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "ataxia - telangiectasia variant",
            "description": ""
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "ataxia-telangiectasia",
            "description": ""
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "cerebello-oculocutaneous telangiectasia",
            "description": ""
        },
        {
            "id": "MONDO:0008840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008840",
            "name": "immunodeficiency with ataxia telangiectasia",
            "description": ""
        },
        {
            "id": "MIM:208900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/208900",
            "name": "Ataxia telangiectasia",
            "description": "Ataxia telangiectasia"
        }
    ]
}