{
    "disease_id": "DOID:0080111",
    "recommended_name": {
        "id": "DOID:0080111",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080111",
        "name": "mitochondrial complex III deficiency nuclear type 1",
        "description": "A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35."
    },
    "synonyms": [
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "mitochondrial complex III deficiency nuclear type 1",
            "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene."
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "BCS1L mitochondrial complex III deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "mitochondrial complex III deficiency caused by mutation in BCS1L",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "Complex 3 mitochondrial respiratory chain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "MC3DN1",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "mitochondrial complex III deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "mitochondrial complex III deficiency, nuclear type 1",
            "description": ""
        },
        {
            "id": "MIM:124000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/124000",
            "name": "Mitochondrial complex III deficiency, nuclear type 1",
            "description": "Mitochondrial complex III deficiency, nuclear type 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080111"
    ],
    "unlinked_id_list": []
}