{
    "disease_id": "DOID:12704", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008840", 
            "name": "ataxia - telangiectasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008840", 
            "name": "boder-Sedgwick syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008840", 
            "name": "AT"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008840", 
            "name": "AT1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008840", 
            "name": "Louis-Bar syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008840", 
            "name": "ataxia - telangiectasia variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008840", 
            "name": "AT, complementation group E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008840", 
            "name": "ataxia telangiectasia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008840", 
            "name": "AT, complementation group D"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008840", 
            "name": "immunodeficiency with ataxia telangiectasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008840", 
            "name": "AT, complementation group C"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008840", 
            "name": "ataxia-telangiectasia; AT"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008840", 
            "name": "AT, complementation group A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008840", 
            "name": "Louis Bar syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008840", 
            "name": "cerebello-oculocutaneous telangiectasia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:12704", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:12704", 
            "name": "Boder-Sedgwick syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:12704", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:12704", 
            "name": "Louis Bar syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:12704", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:12704", 
        "name": "ataxia telangiectasia"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/12704#disease-associations", 
            "id": "12704", 
            "database": "Alliance of Genome Resources"
        }
    ]
}