{
    "disease_id": "DOID:0080359",
    "recommended_name": {
        "id": "DOID:0080359",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080359",
        "name": "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3",
        "description": "A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0014667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014667",
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3",
            "description": "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene."
        },
        {
            "id": "MONDO:0014667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014667",
            "name": "COA5 fatal infantile encephalocardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014667",
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3",
            "description": ""
        },
        {
            "id": "MONDO:0014667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014667",
            "name": "fatal infantile encephalocardiomyopathy caused by mutation in COA5",
            "description": ""
        },
        {
            "id": "MONDO:0014667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014667",
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; CEMCOX3",
            "description": ""
        },
        {
            "id": "MONDO:0014667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014667",
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014667",
            "name": "CEMCOX3",
            "description": ""
        },
        {
            "id": "MIM:616500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616500",
            "name": "Mitochondrial complex IV deficiency, nuclear type 9",
            "description": "Mitochondrial complex IV deficiency, nuclear type 9"
        }
    ]
}