{
    "disease_id": "DOID:0080785",
    "recommended_name": {
        "id": "DOID:0080785",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080785",
        "name": "Brown-Vialetto-Van Laere syndrome 1",
        "description": "A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0024537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024537",
            "name": "Brown-Vialetto-van Laere syndrome 1",
            "description": "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene."
        },
        {
            "id": "MONDO:0024537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024537",
            "name": "pontobulbar palsy with deafness",
            "description": ""
        },
        {
            "id": "MONDO:0024537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024537",
            "name": "SLC52A3 Brown-Vialetto-van Laere syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0024537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024537",
            "name": "bulbar palsy, progressive, with sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0024537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024537",
            "name": "BVVLS1",
            "description": ""
        },
        {
            "id": "MONDO:0024537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024537",
            "name": "BROWN-Vialetto-VAN Laere syndrome 1; BVVLS1",
            "description": ""
        },
        {
            "id": "MONDO:0024537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024537",
            "name": "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3",
            "description": ""
        },
        {
            "id": "MIM:211530",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/211530",
            "name": "Brown-Vialetto-Van Laere syndrome 1",
            "description": "Brown-Vialetto-Van Laere syndrome 1"
        }
    ]
}