{
    "disease_id": "DOID:0110475",
    "recommended_name": {
        "id": "DOID:0110475",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110475",
        "name": "autosomal recessive nonsyndromic deafness 1A",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110475",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110475",
            "name": "DFNB1A",
            "description": ""
        },
        {
            "id": "DOID:0110475",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110475",
            "name": "autosomal recessive deafness 1A",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "autosomal recessive nonsyndromic deafness 1A",
            "description": "An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction."
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "DFNB1",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "DFNB1A",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "autosomal recessive nonsyndromic deafness type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "deafness, autosomal recessive type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "deafness nonsyndromic, connexin 26 linked",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "deafness, autosomal recessive 1A; DFNB1A",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "autosomal recessive deafness 1A",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "deafness, digenic, Gjb2/Gjb6",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "deafness, autosomal recessive 1A",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "connexin 26 deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "deafness, digenic, Gjb2/Gjb3",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "GJB2-related deafness",
            "description": ""
        },
        {
            "id": "MIM:220290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/220290",
            "name": "Deafness, autosomal recessive, 1A",
            "description": "Deafness, autosomal recessive, 1A"
        }
    ]
}