{
    "disease_id": "DOID:0070462",
    "recommended_name": {
        "id": "DOID:0070462",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070462",
        "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 4B",
        "description": "A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance."
    },
    "synonyms": [
        {
            "id": "DOID:0070462",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070462",
            "name": "MC5DN4B",
            "description": ""
        },
        {
            "id": "MONDO:0014091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014091",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B",
            "description": "Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene."
        },
        {
            "id": "MONDO:0014091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014091",
            "name": "ATP5F1A mitochondrial complex deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014091",
            "name": "MC5DN4B",
            "description": ""
        },
        {
            "id": "MONDO:0014091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014091",
            "name": "mitochondrial complex deficiency caused by mutation in ATP5F1A",
            "description": ""
        },
        {
            "id": "MONDO:0014091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014091",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4",
            "description": ""
        },
        {
            "id": "MIM:615228",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615228",
            "name": "Mitochondrial complex V deficiency, nuclear type 4B",
            "description": "Mitochondrial complex V deficiency, nuclear type 4B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070462"
    ],
    "unlinked_id_list": []
}