{
    "disease_id": "DOID:0112074",
    "recommended_name": {
        "id": "DOID:0112074",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112074",
        "name": "nuclear type mitochondrial complex I deficiency 1",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112074",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112074",
            "name": "MC1DN1",
            "description": ""
        },
        {
            "id": "MONDO:0100224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "name": "mitochondrial complex I deficiency, nuclear type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "name": "mitochondrial complex 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "name": "mitochondrial complex I deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "name": "MC1DN1",
            "description": ""
        },
        {
            "id": "MONDO:0100224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "name": "NADH-coenzyme Q reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "name": "NADH:Q(1) oxidoreductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "name": "mitochondrial NADH dehydrogenase component of Complex I, deficiency of",
            "description": ""
        },
        {
            "id": "MONDO:0100224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "name": "mitochondrial complex I deficiency, nuclear type 1",
            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112074"
    ],
    "unlinked_id_list": []
}