{
    "disease_id": "DOID:0080785", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024537", 
            "name": "pontobulbar palsy with deafness"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024537", 
            "name": "SLC52A3 Brown-Vialetto-van Laere syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024537", 
            "name": "bulbar palsy, progressive, with sensorineural deafness"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024537", 
            "name": "BVVLS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024537", 
            "name": "BROWN-Vialetto-VAN Laere syndrome 1; BVVLS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024537", 
            "name": "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080785", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080785", 
        "name": "Brown-Vialetto-Van Laere syndrome 1"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/211530", 
            "id": "211530", 
            "database": "MIM"
        }
    ]
}
