{
    "disease_id": "DOID:0111973",
    "recommended_name": {
        "id": "DOID:0111973",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111973",
        "name": "immunodeficiency 17",
        "description": "A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clinical severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111973",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111973",
            "name": "CD3-gamma deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111973",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111973",
            "name": "IMD17",
            "description": ""
        },
        {
            "id": "DOID:0111973",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111973",
            "name": "immunodeficiency 17, CD3 gamma deficient",
            "description": ""
        },
        {
            "id": "DOID:0111973",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111973",
            "name": "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive",
            "description": ""
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "combined immunodeficiency due to CD3gamma deficiency",
            "description": "Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations."
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "CD3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "CD3-gamma deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "CD3gamma deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "IMD17",
            "description": ""
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive",
            "description": ""
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "combined immunodeficiency due to CD3gamma deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "immunodeficiency 17",
            "description": ""
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "immunodeficiency type 17",
            "description": ""
        },
        {
            "id": "MIM:615607",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615607",
            "name": "Immunodeficiency 17",
            "description": "Immunodeficiency 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111973"
    ],
    "unlinked_id_list": []
}
