{
    "disease_id": "DOID:0111971",
    "recommended_name": {
        "id": "DOID:0111971",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111971",
        "name": "immunodeficiency 18",
        "description": "A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111971",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111971",
            "name": "CD3-epsilon deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111971",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111971",
            "name": "IMD18",
            "description": ""
        },
        {
            "id": "MONDO:0014278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014278",
            "name": "immunodeficiency 18",
            "description": "Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18."
        },
        {
            "id": "MONDO:0014278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014278",
            "name": "CD3-Epsilon deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014278",
            "name": "IMD18",
            "description": ""
        },
        {
            "id": "MONDO:0014278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014278",
            "name": "immunodeficiency 18",
            "description": ""
        },
        {
            "id": "MONDO:0014278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014278",
            "name": "immunodeficiency 18, SCID variant",
            "description": ""
        },
        {
            "id": "MONDO:0014278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014278",
            "name": "immunodeficiency 18, Severe combined immunodeficiency variant",
            "description": ""
        },
        {
            "id": "MONDO:0014278",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014278",
            "name": "immunodeficiency type 18",
            "description": ""
        },
        {
            "id": "MIM:615615",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615615",
            "name": "Immunodeficiency 18",
            "description": "Immunodeficiency 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111971"
    ],
    "unlinked_id_list": []
}