{
    "disease_id": "DOID:0111479",
    "recommended_name": {
        "id": "DOID:0111479",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111479",
        "name": "combined oxidative phosphorylation deficiency 8",
        "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 the AARS2 gene on chromosome 6p21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111479",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111479",
            "name": "COXPD8",
            "description": ""
        },
        {
            "id": "MONDO:0013570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013570",
            "name": "combined oxidative phosphorylation defect type 8",
            "description": "Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement."
        },
        {
            "id": "MONDO:0013570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013570",
            "name": "AARS2 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013570",
            "name": "COXPD8",
            "description": ""
        },
        {
            "id": "MONDO:0013570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013570",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in AARS2",
            "description": ""
        },
        {
            "id": "MONDO:0013570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013570",
            "name": "combined oxidative phosphorylation deficiency type 8",
            "description": ""
        },
        {
            "id": "MONDO:0013570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013570",
            "name": "cardiomyopathy, hypertrophic mitochondrial, fatal infantile",
            "description": ""
        },
        {
            "id": "MONDO:0013570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013570",
            "name": "combined oxidative phosphorylation deficiency 8",
            "description": ""
        },
        {
            "id": "MIM:614096",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614096",
            "name": "Combined oxidative phosphorylation deficiency 8",
            "description": "Combined oxidative phosphorylation deficiency 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111479"
    ],
    "unlinked_id_list": []
}