{
    "disease_id": "DOID:0070734",
    "recommended_name": {
        "id": "DOID:0070734",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070734",
        "name": "episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy",
        "description": "A multiple mitochondrial dysfunctions syndrome characterized by childhood onset of progressive muscle weakness and exercise intolerance, with episodic exacerbation, that has_material_basis_in homozygous mutation in the FDX2 gene on chromosome 19p13. Additional more variable features include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy."
    },
    "synonyms": [
        {
            "id": "DOID:0070734",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070734",
            "name": "MEOAL",
            "description": ""
        },
        {
            "id": "DOID:0070734",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070734",
            "name": "MMDS8",
            "description": ""
        },
        {
            "id": "DOID:0070734",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070734",
            "name": "multiple mitochondrial dysfunctions syndrome 8",
            "description": ""
        },
        {
            "id": "MONDO:0020714",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020714",
            "name": "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy",
            "description": ""
        },
        {
            "id": "MIM:251900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251900",
            "name": "Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy",
            "description": "Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070734"
    ],
    "unlinked_id_list": []
}