{
    "disease_id": "DOID:0111983", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0044721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0044721", 
            "name": "severe combined immunodeficiency due to LAT deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0044721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0044721", 
            "name": "SCID due to LAT deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0044721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0044721", 
            "name": "immunodeficiency 52; IMD52"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0044721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0044721", 
            "name": "IMD52"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111983", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111983", 
            "name": "IMD52"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111983", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111983", 
            "name": "severe combined immunodeficiency due to LAT deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111983", 
        "description": "A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111983", 
        "name": "immunodeficiency 52"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/617514", 
            "id": "617514", 
            "database": "MIM"
        }
    ]
}
