{
    "disease_id": "DOID:0110498",
    "recommended_name": {
        "id": "DOID:0110498",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110498",
        "name": "autosomal recessive nonsyndromic deafness 4",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110498",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110498",
            "name": "DFNB4",
            "description": ""
        },
        {
            "id": "DOID:0110498",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110498",
            "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
            "description": ""
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "autosomal recessive nonsyndromic hearing loss 4",
            "description": "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes."
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "enlarged vestibular aqueduct",
            "description": ""
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "enlarged vestibular aqueduct, digenic",
            "description": ""
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "DFNB4",
            "description": ""
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
            "description": ""
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "autosomal recessive nonsyndromic deafness 4",
            "description": ""
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "autosomal recessive nonsyndromic deafness type 4",
            "description": ""
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "deafness, autosomal recessive 4, with enlarged vestibular aqueduct",
            "description": ""
        },
        {
            "id": "MONDO:0010933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010933",
            "name": "neurosensory nonsyndromic recessive deafness 4",
            "description": ""
        },
        {
            "id": "MIM:600791",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600791",
            "name": "Deafness, autosomal recessive, 4",
            "description": "Deafness, autosomal recessive, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110498"
    ],
    "unlinked_id_list": []
}