{
    "disease_id": "DOID:0061066",
    "recommended_name": {
        "id": "DOID:0061066",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061066",
        "name": "immunodeficiency 96",
        "description": "A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0030693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030693",
            "name": "immunodeficiency 96",
            "description": "An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair."
        },
        {
            "id": "MONDO:0030693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030693",
            "name": "IMD96",
            "description": ""
        },
        {
            "id": "MONDO:0030693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030693",
            "name": "immunodeficiency 96",
            "description": ""
        },
        {
            "id": "MONDO:0030693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030693",
            "name": "immunodeficiency, autosomal recessive due to LIG1 deficiency",
            "description": ""
        },
        {
            "id": "MIM:619774",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619774",
            "name": "Immunodeficiency 96",
            "description": "Immunodeficiency 96"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061066"
    ],
    "unlinked_id_list": []
}