{
    "disease_id": "DOID:0070463",
    "recommended_name": {
        "id": "DOID:0070463",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070463",
        "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 5",
        "description": "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070463",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070463",
            "name": "MC5DN5",
            "description": ""
        },
        {
            "id": "MONDO:0020858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020858",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 5",
            "description": "Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1D gene."
        },
        {
            "id": "MONDO:0020858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020858",
            "name": "MC5DN5",
            "description": ""
        },
        {
            "id": "MONDO:0020858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020858",
            "name": "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5",
            "description": ""
        },
        {
            "id": "MONDO:0020858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020858",
            "name": "Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type",
            "description": ""
        },
        {
            "id": "MONDO:0020858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020858",
            "name": "mitochondrial complex v (atp synthase) deficiency",
            "description": ""
        },
        {
            "id": "MIM:618120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618120",
            "name": "Mitochondrial complex V deficiency, nuclear type 5",
            "description": "Mitochondrial complex V deficiency, nuclear type 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070463"
    ],
    "unlinked_id_list": []
}