{
    "disease_id": "DOID:0070498",
    "recommended_name": {
        "id": "DOID:0070498",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070498",
        "name": "mitochondrial complex IV deficiency nuclear type 12",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070498",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070498",
            "name": "MC4DN12",
            "description": ""
        },
        {
            "id": "MONDO:0033646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033646",
            "name": "mitochondrial complex IV deficiency, nuclear type 12",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the PET100 gene."
        },
        {
            "id": "MONDO:0033646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033646",
            "name": "MC4DN12",
            "description": ""
        },
        {
            "id": "MONDO:0033646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033646",
            "name": "mitochondrial complex IV deficiency, nuclear type 12",
            "description": ""
        },
        {
            "id": "MIM:619055",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619055",
            "name": "Mitochondrial complex IV deficiency, nuclear type 12",
            "description": "Mitochondrial complex IV deficiency, nuclear type 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070498"
    ],
    "unlinked_id_list": []
}