{
    "disease_id": "DOID:0070672",
    "recommended_name": {
        "id": "DOID:0070672",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070672",
        "name": "autosomal recessive nonsyndromic deafness 118",
        "description": "An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss and cochlear aplasia that has_material_basis_in homozygous 200-kb deletion of a region downstream of the GDF6 gene on chromosome 8q22 resulting in its misexpression."
    },
    "synonyms": [
        {
            "id": "DOID:0070672",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070672",
            "name": "DFNB118",
            "description": ""
        },
        {
            "id": "MONDO:0030449",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030449",
            "name": "hearing loss, autosomal recessive 118, with cochlear aplasia",
            "description": ""
        },
        {
            "id": "MONDO:0030449",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030449",
            "name": "DFNB118",
            "description": ""
        },
        {
            "id": "MONDO:0030449",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030449",
            "name": "deafness, autosomal recessive 118, with cochlear aplasia",
            "description": ""
        },
        {
            "id": "MIM:619553",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619553",
            "name": "Deafness, autosomal recessive, 118, with cochlear aplasia",
            "description": "Deafness, autosomal recessive, 118, with cochlear aplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070672"
    ],
    "unlinked_id_list": []
}