{
    "disease_id": "DOID:0080357",
    "recommended_name": {
        "id": "DOID:0080357",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080357",
        "name": "mitochondrial complex IV deficiency nuclear type 2",
        "description": "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080357",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080357",
            "name": "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1",
            "description": ""
        },
        {
            "id": "DOID:0080357",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080357",
            "name": "MC4DN2",
            "description": ""
        },
        {
            "id": "MONDO:0011451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011451",
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1",
            "description": "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene."
        },
        {
            "id": "MONDO:0011451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011451",
            "name": "SCO2 fatal infantile encephalocardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011451",
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011451",
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1",
            "description": ""
        },
        {
            "id": "MONDO:0011451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011451",
            "name": "fatal infantile encephalocardiomyopathy caused by mutation in SCO2",
            "description": ""
        },
        {
            "id": "MONDO:0011451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011451",
            "name": "mitochondrial complex IV deficiency, nuclear type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011451",
            "name": "CEMCOX1",
            "description": ""
        },
        {
            "id": "MIM:604377",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604377",
            "name": "Mitochondrial complex IV deficiency, nuclear type 2",
            "description": "Mitochondrial complex IV deficiency, nuclear type 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080357"
    ],
    "unlinked_id_list": []
}