{
    "disease_id": "DOID:0111948", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014760", 
            "name": "TFRC-related combined immunodeficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014760", 
            "name": "combined immunodeficiency due to TFRC deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014760", 
            "name": "IMD46"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014760", 
            "name": "immunodeficiency type 46"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014760", 
            "name": "immunodeficiency 46; IMD46"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014760", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014760", 
            "name": "Cid due to TFRC deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111948", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111948", 
            "name": "IMD46"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111948", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111948", 
            "name": "CID due to TFRC deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111948", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111948", 
            "name": "TFRC-related combined immunodeficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111948", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111948", 
            "name": "combined immunodeficiency due to TFRC deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111948", 
        "description": "A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in TFRC on chromosome 3q29.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111948", 
        "name": "immunodeficiency 46"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111948#disease-associations", 
            "id": "0111948", 
            "database": "Alliance of Genome Resources"
        }
    ]
}