{
    "disease_id": "DOID:0110950",
    "recommended_name": {
        "id": "DOID:0110950",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110950",
        "name": "Waardenburg syndrome type 2A",
        "description": "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110950",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110950",
            "name": "WS2A",
            "description": ""
        },
        {
            "id": "DOID:0110950",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110950",
            "name": "Waardenburg syndrome type IIA",
            "description": ""
        },
        {
            "id": "MONDO:0008671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "name": "Waardenburg syndrome type 2A",
            "description": "Waardenburg syndrome Type 2 caused by mutations in the MITF gene."
        },
        {
            "id": "MONDO:0008671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "name": "Waardenburg syndrome, type 2A; WS2A",
            "description": ""
        },
        {
            "id": "MONDO:0008671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "name": "Waardenburg syndrome type IIA",
            "description": ""
        },
        {
            "id": "MONDO:0008671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "name": "WS2A",
            "description": ""
        },
        {
            "id": "MONDO:0008671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "name": "Ws2",
            "description": ""
        },
        {
            "id": "MONDO:0008671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "name": "Waardenburg syndrome type 2 caused by mutation in MITF",
            "description": ""
        },
        {
            "id": "MONDO:0008671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "name": "Waardenburg syndrome, type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0008671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "name": "MITF Waardenburg syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008671",
            "name": "Waardenburg syndrome without dystopia canthorum",
            "description": ""
        },
        {
            "id": "MIM:193510",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/193510",
            "name": "Waardenburg syndrome 2A",
            "description": "Waardenburg syndrome 2A"
        }
    ]
}