{
    "disease_id": "DOID:0111938", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014391", 
            "name": "severe combined immunodeficiency due to CTPS1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014391", 
            "name": "immunodeficiency 24; IMD24"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014391", 
            "name": "IMD24"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014391", 
            "name": "immunodeficiency type 24"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014391", 
            "name": "SCID due to CTPS1 deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111938", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111938", 
            "name": "IMD24"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111938", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111938", 
            "name": "severe combined immunodeficiency due to CTPS1 deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111938", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111938", 
            "name": "SCID due to CTPS1 deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111938", 
        "description": "A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in CTPS1 on chromosome 1p34.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111938", 
        "name": "immunodeficiency 24"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111938#disease-associations", 
            "id": "0111938", 
            "database": "Alliance of Genome Resources"
        }
    ]
}