{
    "disease_id": "DOID:0060013",
    "recommended_name": {
        "id": "DOID:0060013",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060013",
        "name": "X-linked severe combined immunodeficiency",
        "description": "A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells."
    },
    "synonyms": [
        {
            "id": "DOID:0060013",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060013",
            "name": "SCID-X1",
            "description": ""
        },
        {
            "id": "DOID:0060013",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060013",
            "name": "X-Linked Severe Combined Immunodeficiency",
            "description": ""
        },
        {
            "id": "DOID:0060013",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060013",
            "name": "XSCID",
            "description": ""
        },
        {
            "id": "DOID:0060013",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060013",
            "name": "gamma chain deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060013",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060013",
            "name": "thymic epithelial hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "T-B+ severe combined immunodeficiency due to gamma chain deficiency",
            "description": "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive."
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "severe combined immunodeficiency, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "severe combined immunodeficiency, X-linked; SCIDX1",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "X-SCID",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "severe combined immunodeficiency T- B+ due to gamma chain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "SCIDX",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "XSCID",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "T-B+ severe combined immunodeficiency due to gamma chain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "X-linked severe combined immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "SCID, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "X-linked SCID",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "immunodeficiency 4",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "thymic epithelial hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "severe combined immunodeficiency T- B+, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "T-B+ severe combined immunodeficiency, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "SCID-X1",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "SCIDX1",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "T-B+ SCID due to gamma chain deficiency",
            "description": ""
        },
        {
            "id": "MIM:300400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300400",
            "name": "Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative",
            "description": "Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative"
        }
    ]
}