{
    "disease_id": "DOID:0090014",
    "recommended_name": {
        "id": "DOID:0090014",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090014",
        "name": "severe combined immunodeficiency 104",
        "description": "A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13."
    },
    "synonyms": [
        {
            "id": "DOID:0090014",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090014",
            "name": "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID",
            "description": ""
        },
        {
            "id": "DOID:0090014",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090014",
            "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive",
            "description": ""
        },
        {
            "id": "DOID:0090014",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090014",
            "name": "interleukin-7 receptor alpha deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012163",
            "name": "immunodeficiency 104",
            "description": "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31."
        },
        {
            "id": "MONDO:0012163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012163",
            "name": "IMD104",
            "description": ""
        },
        {
            "id": "MONDO:0012163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012163",
            "name": "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID",
            "description": ""
        },
        {
            "id": "MONDO:0012163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012163",
            "name": "severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive",
            "description": ""
        },
        {
            "id": "MONDO:0012163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012163",
            "name": "severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type",
            "description": ""
        },
        {
            "id": "MONDO:0012163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012163",
            "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive",
            "description": ""
        },
        {
            "id": "MIM:608971",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608971",
            "name": "Immunodeficiency 104, severe combined",
            "description": "Immunodeficiency 104, severe combined"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090014"
    ],
    "unlinked_id_list": []
}