{
    "disease_id": "DOID:0111938",
    "recommended_name": {
        "id": "DOID:0111938",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111938",
        "name": "immunodeficiency 24",
        "description": "A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111938",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111938",
            "name": "severe combined immunodeficiency due to CTPS1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111938",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111938",
            "name": "IMD24",
            "description": ""
        },
        {
            "id": "DOID:0111938",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111938",
            "name": "SCID due to CTPS1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014391",
            "name": "combined immunodeficiency due to CTPS1 deficiency",
            "description": "Rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens."
        },
        {
            "id": "MONDO:0014391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014391",
            "name": "CTPS1-related combined immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014391",
            "name": "SCID due to CTPS1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014391",
            "name": "immunodeficiency type 24",
            "description": ""
        },
        {
            "id": "MONDO:0014391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014391",
            "name": "IMD24",
            "description": ""
        },
        {
            "id": "MONDO:0014391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014391",
            "name": "immunodeficiency 24",
            "description": ""
        },
        {
            "id": "MIM:615897",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615897",
            "name": "Immunodeficiency 24",
            "description": "Immunodeficiency 24"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111938"
    ],
    "unlinked_id_list": []
}