{
    "disease_id": "DOID:0112159",
    "recommended_name": {
        "id": "DOID:0112159",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112159",
        "name": "autosomal dominant nonsyndromic deafness 78",
        "description": "An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of SLC12A2 on chromosome 5q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112159",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112159",
            "name": "DFNA78",
            "description": ""
        },
        {
            "id": "MIM:619081",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619081",
            "name": "Deafness, autosomal dominant, 78",
            "description": "Deafness, autosomal dominant, 78"
        }
    ]
}