{
    "disease_id": "DOID:0060351",
    "recommended_name": {
        "id": "DOID:0060351",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060351",
        "name": "mitochondrial complex III deficiency nuclear type 2",
        "description": "A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern."
    },
    "synonyms": [
        {
            "id": "DOID:0060351",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060351",
            "name": "MC3DN2",
            "description": ""
        },
        {
            "id": "MONDO:0014063",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014063",
            "name": "mitochondrial complex III deficiency nuclear type 2",
            "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene."
        },
        {
            "id": "MONDO:0014063",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014063",
            "name": "MC3DN2",
            "description": ""
        },
        {
            "id": "MONDO:0014063",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014063",
            "name": "TTC19 mitochondrial complex III deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014063",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014063",
            "name": "mitochondrial complex III deficiency caused by mutation in TTC19",
            "description": ""
        },
        {
            "id": "MONDO:0014063",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014063",
            "name": "mitochondrial complex III deficiency nuclear type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014063",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014063",
            "name": "mitochondrial complex III deficiency, nuclear type 2",
            "description": ""
        },
        {
            "id": "MIM:615157",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615157",
            "name": "Mitochondrial complex III deficiency, nuclear type 2",
            "description": "Mitochondrial complex III deficiency, nuclear type 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060351"
    ],
    "unlinked_id_list": []
}
