{
    "disease_id": "DOID:0090014", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012163", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012163", 
            "name": "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012163", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012163", 
            "name": "SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012163", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012163", 
            "name": "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090014", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090014", 
            "name": "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090014", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090014", 
        "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090014#disease-associations", 
            "id": "0090014", 
            "database": "Alliance of Genome Resources"
        }
    ]
}