{
    "disease_id": "DOID:0111983",
    "recommended_name": {
        "id": "DOID:0111983",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111983",
        "name": "immunodeficiency 52",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111983",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111983",
            "name": "IMD52",
            "description": ""
        },
        {
            "id": "DOID:0111983",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111983",
            "name": "severe combined immunodeficiency due to LAT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044721",
            "name": "severe combined immunodeficiency due to LAT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044721",
            "name": "SCID due to LAT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044721",
            "name": "immunodeficiency 52",
            "description": ""
        },
        {
            "id": "MONDO:0044721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044721",
            "name": "immunodeficiency 52; IMD52",
            "description": ""
        },
        {
            "id": "MONDO:0044721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044721",
            "name": "IMD52",
            "description": ""
        },
        {
            "id": "MIM:617514",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617514",
            "name": "Immunodeficiency 52",
            "description": "Immunodeficiency 52"
        }
    ]
}