{
    "disease_id": "DOID:0060690",
    "recommended_name": {
        "id": "DOID:0060690",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060690",
        "name": "autosomal dominant auditory neuropathy 1",
        "description": "An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q."
    },
    "synonyms": [
        {
            "id": "DOID:0060690",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060690",
            "name": "AUNA1",
            "description": ""
        },
        {
            "id": "DOID:0060690",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060690",
            "name": "NSDAN",
            "description": ""
        },
        {
            "id": "DOID:0060690",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060690",
            "name": "nonsyndromic dominant auditory neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0012196",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012196",
            "name": "autosomal dominant auditory neuropathy 1",
            "description": "Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene."
        },
        {
            "id": "MONDO:0012196",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012196",
            "name": "AUNA1",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012196",
            "name": "DIAPH3 auditory neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0012196",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012196",
            "name": "NSDAN",
            "description": ""
        },
        {
            "id": "MONDO:0012196",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012196",
            "name": "auditory neuropathy caused by mutation in DIAPH3",
            "description": ""
        },
        {
            "id": "MONDO:0012196",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012196",
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            "description": ""
        },
        {
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            "resource": "MONDO",
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            "description": ""
        },
        {
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            "resource": "MONDO",
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            "name": "auditory neuropathy, autosomal dominant, 1",
            "description": ""
        },
        {
            "id": "MIM:609129",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609129",
            "name": "Auditory neuropathy, autosomal dominant 1",
            "description": "Auditory neuropathy, autosomal dominant 1"
        }
    ],
    "children": [],
    "id_list": [
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    ],
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    "crossref": [
        {
            "id": "DOID:0060690",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060690",
            "categories": []
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            "url": "https://monarchinitiative.org/disease/MONDO:0012196",
            "categories": []
        },
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                {
                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
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            ],
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                    "name": "Protein diaphanous",
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                    "name": "CG1768-PE",
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                    "name": "dia-PE",
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                    "name": "diaphanous, isoform E",
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                    "name": "38E.16",
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                    "name": "CG1768",
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                    "name": "DIA",
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                    "name": "Diaphanous",
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                    "name": "Dias",
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                {
                    "name": "Dia",
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                {
                    "name": "Dmel\\CG1768",
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                {
                    "name": "Dmel_CG1768",
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                {
                    "name": "dia",
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                    "name": "l(2)k07135",
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                {
                    "name": "ms(2)04138",
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                {
                    "id": "0060690",
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            "uniprot_canonical_ac": "O60879-1",
            "uniprot_ac": "O60879",
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                    "name": "Diaphanous-related formin-2",
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                {
                    "name": "Premature ovarian failure 2A",
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                    "name": "diaphanous homolog 2",
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                    "name": "protein diaphanous homolog 2 isoform 156",
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            ],
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                    "name": "protein diaphanous homolog 1 isoform 2",
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                {
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                {
                    "name": "DIAP1",
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                {
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                {
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                    "name": "SCBMS",
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                {
                    "name": "hDIA1",
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                {
                    "name": "mDia1",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060690"
}