{
    "disease_id": "DOID:0050834",
    "recommended_name": {
        "id": "DOID:0050834",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050834",
        "name": "CHARGE syndrome",
        "description": "A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina."
    },
    "synonyms": [
        {
            "id": "DOID:0050834",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050834",
            "name": "CHARGE association",
            "description": ""
        },
        {
            "id": "MONDO:0008965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008965",
            "name": "CHARGE syndrome",
            "description": "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)."
        },
        {
            "id": "MONDO:0008965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008965",
            "name": "coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008965",
            "name": "CHARGE association",
            "description": ""
        },
        {
            "id": "MONDO:0008965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008965",
            "name": "Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0008965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008965",
            "name": "CHARGE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008965",
            "name": "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association",
            "description": ""
        },
        {
            "id": "MONDO:0008965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008965",
            "name": "coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0008965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008965",
            "name": "Hall-Hittner syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008965",
            "name": "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association",
            "description": ""
        },
        {
            "id": "MIM:214800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/214800",
            "name": "CHARGE syndrome",
            "description": "CHARGE syndrome"
        }
    ]
}