{
    "disease_id": "DOID:0050768",
    "recommended_name": {
        "id": "DOID:0050768",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050768",
        "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1",
        "description": "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11."
    },
    "synonyms": [
        {
            "id": "DOID:0050768",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050768",
            "name": "MC5DN1",
            "description": ""
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1",
            "description": "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene."
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "MC5DN1",
            "description": ""
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "mitochondrial complex V deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1; MC5DN1",
            "description": ""
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type",
            "description": ""
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "Complex 5 mitochondrial respiratory chain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2",
            "description": ""
        },
        {
            "id": "MIM:604273",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604273",
            "name": "Mitochondrial complex V deficiency, nuclear type 1",
            "description": "Mitochondrial complex V deficiency, nuclear type 1"
        }
    ]
}