{
    "disease_id": "DOID:0111479", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013570", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013570", 
            "name": "combined oxidative phosphorylation defect type 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013570", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013570", 
            "name": "combined oxidative phosphorylation deficiency type 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013570", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013570", 
            "name": "cardiomyopathy, hypertrophic mitochondrial, fatal infantile"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013570", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013570", 
            "name": "combined oxidative phosphorylation deficiency caused by mutation in AARS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013570", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013570", 
            "name": "combined oxidative phosphorylation deficiency 8; COXPD8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013570", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013570", 
            "name": "COXPD8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013570", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013570", 
            "name": "AARS2 combined oxidative phosphorylation deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111479", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111479", 
            "name": "COXPD8"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111479", 
        "description": "A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in AARS2 on chromosome 6p21.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111479", 
        "name": "combined oxidative phosphorylation deficiency 8"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111479#disease-associations", 
            "id": "0111479", 
            "database": "Alliance of Genome Resources"
        }
    ]
}