{
    "disease_id": "DOID:0080357", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011451", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011451", 
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011451", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011451", 
            "name": "SCO2 fatal infantile encephalocardiomyopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011451", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011451", 
            "name": "CEMCOX1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011451", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011451", 
            "name": "fatal infantile encephalocardiomyopathy caused by mutation in SCO2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011451", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011451", 
            "name": "cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011451", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011451", 
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; CEMCOX1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011451", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011451", 
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080357", 
        "description": "A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080357", 
        "name": "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080357#disease-associations", 
            "id": "0080357", 
            "database": "Alliance of Genome Resources"
        }
    ]
}