{
    "disease_id": "DOID:0060331",
    "recommended_name": {
        "id": "DOID:0060331",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060331",
        "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 2",
        "description": "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21."
    },
    "synonyms": [
        {
            "id": "DOID:0060331",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060331",
            "name": "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060331",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060331",
            "name": "MC5DN2",
            "description": ""
        },
        {
            "id": "MONDO:0013546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 2",
            "description": "Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the TMEM70 gene. It is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria."
        },
        {
            "id": "MONDO:0013546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "name": "MC5DN2",
            "description": ""
        },
        {
            "id": "MONDO:0013546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "name": "mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "name": "mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "name": "mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "name": "3-MGCA type IV (3-MGCA-4) (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0013546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "name": "TMEM70 defect",
            "description": ""
        },
        {
            "id": "MIM:614052",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614052",
            "name": "Mitochondrial complex V deficiency, nuclear type 2",
            "description": "Mitochondrial complex V deficiency, nuclear type 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060331"
    ],
    "unlinked_id_list": []
}