{
    "disease_id": "DOID:0060536",
    "recommended_name": {
        "id": "DOID:0060536",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060536",
        "name": "mitochondrial complex I deficiency",
        "description": "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded."
    },
    "synonyms": [
        {
            "id": "DOID:0060536",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060536",
            "name": "isolated mitochondrial respiratory chain complex I deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060536",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060536",
            "name": "isolated NADH-CoQ reductase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060536",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060536",
            "name": "isolated NADH-coenzyme Q reductase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060536",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060536",
            "name": "isolated NADH-ubiquinone reductase deficiency",
            "description": ""
        }
    ],
    "children": [
        {
            "id": "DOID:0112065",
            "label": "nuclear type mitochondrial complex I deficiency",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0112066",
                    "label": "nuclear type mitochondrial complex I deficiency 6",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112067",
                    "label": "nuclear type mitochondrial complex I deficiency 25",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112068",
                    "label": "nuclear type mitochondrial complex I deficiency 5",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112069",
                    "label": "nuclear type mitochondrial complex I deficiency 22",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112070",
                    "label": "nuclear type mitochondrial complex I deficiency 18",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112071",
                    "label": "nuclear type mitochondrial complex I deficiency 31",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112072",
                    "label": "nuclear type mitochondrial complex I deficiency 20",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112073",
                    "label": "nuclear type mitochondrial complex I deficiency 9",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112074",
                    "label": "nuclear type mitochondrial complex I deficiency 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112075",
                    "label": "nuclear type mitochondrial complex I deficiency 10",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112076",
                    "label": "nuclear type mitochondrial complex I deficiency 13",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112077",
                    "label": "nuclear type mitochondrial complex I deficiency 15",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112078",
                    "label": "nuclear type mitochondrial complex I deficiency 17",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112079",
                    "label": "nuclear type mitochondrial complex I deficiency 24",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112080",
                    "label": "nuclear type mitochondrial complex I deficiency 32",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112081",
                    "label": "nuclear type mitochondrial complex I deficiency 8",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112082",
                    "label": "nuclear type mitochondrial complex I deficiency 4",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112083",
                    "label": "nuclear type mitochondrial complex I deficiency 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112084",
                    "label": "nuclear type mitochondrial complex I deficiency 29",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112085",
                    "label": "nuclear type mitochondrial complex I deficiency 19",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112086",
                    "label": "nuclear type mitochondrial complex I deficiency 26",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112087",
                    "label": "nuclear type mitochondrial complex I deficiency 23",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112088",
                    "label": "nuclear type mitochondrial complex I deficiency 21",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112089",
                    "label": "nuclear type mitochondrial complex I deficiency 11",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112090",
                    "label": "nuclear type mitochondrial complex I deficiency 27",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112091",
                    "label": "nuclear type mitochondrial complex I deficiency 34",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112092",
                    "label": "nuclear type mitochondrial complex I deficiency 7",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112093",
                    "label": "nuclear type mitochondrial complex I deficiency 3",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112094",
                    "label": "nuclear type mitochondrial complex I deficiency 14",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112095",
                    "label": "nuclear type mitochondrial complex I deficiency 28",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112096",
                    "label": "nuclear type mitochondrial complex I deficiency 16",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112097",
                    "label": "nuclear type mitochondrial complex I deficiency 33",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112098",
                    "label": "nuclear type mitochondrial complex I deficiency 30",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112099",
                    "label": "nuclear type mitochondrial complex I deficiency 12",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0112100",
            "label": "mitochondrial type mitochondrial complex I deficiency",
            "link_status": false,
            "children": [
                {
                    "id": "DOID:0112101",
                    "label": "mitochondrial type mitochondrial complex I deficiency 1",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0112139",
            "label": "nuclear type mitochondrial complex I deficiency 35",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0112077",
        "DOID:0112088",
        "DOID:0112098",
        "DOID:0112089",
        "DOID:0112092",
        "DOID:0112083",
        "DOID:0112076",
        "DOID:0112066",
        "DOID:0112081",
        "DOID:0112101",
        "DOID:0112065",
        "DOID:0112082",
        "DOID:0112086",
        "DOID:0112090",
        "DOID:0112071",
        "DOID:0112075",
        "DOID:0112087",
        "DOID:0112097",
        "DOID:0112096",
        "DOID:0112079",
        "DOID:0112073",
        "DOID:0112072",
        "DOID:0112078",
        "DOID:0112085",
        "DOID:0112100",
        "DOID:0112091",
        "DOID:0112067",
        "DOID:0112094",
        "DOID:0060536",
        "DOID:0112068",
        "DOID:0112070",
        "DOID:0112093",
        "DOID:0112099",
        "DOID:0112139",
        "DOID:0112074",
        "DOID:0112069",
        "DOID:0112080",
        "DOID:0112095",
        "DOID:0112084"
    ],
    "unlinked_id_list": [
        "DOID:0112100"
    ]
}