{
    "disease_id": "DOID:0050757",
    "recommended_name": {
        "id": "DOID:0050757",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050757",
        "name": "deafness-dystonia-optic neuronopathy syndrome",
        "description": "A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria."
    },
    "synonyms": [
        {
            "id": "DOID:0050757",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050757",
            "name": "Deafness Dystonia Optic Atrophy Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050757",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050757",
            "name": "Deafness Dystonia Optic Neuronopathy Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050757",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050757",
            "name": "Dystonia Deafness Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050757",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050757",
            "name": "Jensen syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050757",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050757",
            "name": "Mohr-Tranebjaerg syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050757",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050757",
            "name": "deafness dystonia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "deafness dystonia syndrome",
            "description": "An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards."
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "DDON syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "Deafness-Dystonia-Optic Neuronopathy Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "Mohr-Tranebjaerg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "Mohr-Tranebjaerg syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "deafness dystonia optic neuronopathy syndrome (DDON)",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "deafness dystonia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "deafness-dystonia-optic neuronopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "DDP",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "MOHR-Tranebjaerg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "MTS",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "deafness - dystonia - optic neuronopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "deafness-dystonia-optic neuronopathy (DDON) syndrome",
            "description": ""
        },
        {
            "id": "MIM:304700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/304700",
            "name": "Mohr-Tranebjaerg syndrome",
            "description": "Mohr-Tranebjaerg syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050757"
    ],
    "unlinked_id_list": []
}