{
    "disease_id": "DOID:0111478",
    "recommended_name": {
        "id": "DOID:0111478",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111478",
        "name": "combined oxidative phosphorylation deficiency 20",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in VARS2 on chromosome 6p21.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111478",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111478",
            "name": "COXPD20",
            "description": ""
        },
        {
            "id": "MONDO:0014397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014397",
            "name": "combined oxidative phosphorylation defect type 20",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene."
        },
        {
            "id": "MONDO:0014397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014397",
            "name": "combined oxidative phosphorylation deficiency 20",
            "description": ""
        },
        {
            "id": "MONDO:0014397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014397",
            "name": "VARS2 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014397",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in VARS2",
            "description": ""
        },
        {
            "id": "MONDO:0014397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014397",
            "name": "combined oxidative phosphorylation deficiency type 20",
            "description": ""
        },
        {
            "id": "MONDO:0014397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014397",
            "name": "COXPD20",
            "description": ""
        },
        {
            "id": "MONDO:0014397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014397",
            "name": "combined oxidative phosphorylation deficiency 20; COXPD20",
            "description": ""
        },
        {
            "id": "MIM:615917",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615917",
            "name": "Combined oxidative phosphorylation deficiency 20",
            "description": "Combined oxidative phosphorylation deficiency 20"
        }
    ]
}