{
    "disease_id": "DOID:0112065",
    "recommended_name": {
        "id": "DOID:0112065",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112065",
        "name": "nuclear type mitochondrial complex I deficiency",
        "description": "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome."
    },
    "synonyms": [
        {
            "id": "DOID:0112065",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112065",
            "name": "MC1DN",
            "description": ""
        },
        {
            "id": "MONDO:0009640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009640",
            "name": "mitochondrial complex I deficiency",
            "description": "Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is 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 (see these terms)."
        },
        {
            "id": "MONDO:0009640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009640",
            "name": "NADH coenzyme Q reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009640",
            "name": "mitochondrial Complex 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009640",
            "name": "isolated NADH-ubiquinone reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009640",
            "name": "Complex 1 mitochondrial respiratory chain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009640",
            "name": "mitochondrial complex I deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009640",
            "name": "NADH-Coenzyme Q reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009640",
            "name": "NADH:Q(1) oxidoreductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009640",
            "name": "isolated NADH-CoQ reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009640",
            "name": "mitochondrial NADH dehydrogenase component of Complex I, deficiency of",
            "description": ""
        },
        {
            "id": "MONDO:0009640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009640",
            "name": "isolated mitochondrial respiratory chain complex I deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009640",
            "name": "isolated NADH-coenzyme Q reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009640",
            "name": "isolated complex I deficiency",
            "description": ""
        },
        {
            "id": "MIM:252010",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/252010",
            "name": "Mitochondrial complex I deficiency, nuclear type 1",
            "description": "Mitochondrial complex I deficiency, nuclear type 1"
        }
    ]
}