{
    "disease_id": "DOID:11198",
    "recommended_name": {
        "id": "DOID:11198",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:11198",
        "name": "DiGeorge syndrome",
        "description": "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production."
    },
    "synonyms": [
        {
            "id": "DOID:11198",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:11198",
            "name": "22q11.2 deletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:11198",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:11198",
            "name": "DiGeorge sequence",
            "description": ""
        },
        {
            "id": "DOID:11198",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:11198",
            "name": "DiGeorge's syndrome",
            "description": ""
        },
        {
            "id": "DOID:11198",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:11198",
            "name": "Pharyngeal pouch syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "DiGeorge syndrome",
            "description": "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly."
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "pharyngeal pouch syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "Di-George syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "DiGeorge sequence",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "DGS1",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "chromosome 22Q11.2 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "DiGeorge syndrome; DGS",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "DiGeorge syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "Takao VCF syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "DiGeorge syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "velocardiofacial syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "third and fourth pharyngeal pouch syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "Catch22",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "Sphrintzen",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "hypoplasia of thymus and parathyroids",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "DGS",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "22q deletion syndrome(s)",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "DiGeorge syndrome chromosome region",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "velo-cardio-facial syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "VCF",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "22q11.2 Deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "DiGeorge anomaly",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "DiGeorge's syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008564",
            "name": "Shprintzen syndrome",
            "description": ""
        },
        {
            "id": "MIM:188400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/188400",
            "name": "DiGeorge syndrome",
            "description": "DiGeorge syndrome"
        }
    ]
}