{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0070734",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070734",
            "categories": []
        },
        {
            "id": "MONDO:0020714",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020714",
            "categories": []
        },
        {
            "id": "MIM:251900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/251900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6P4F2-1",
            "uniprot_ac": "Q6P4F2",
            "uniprot_id": "FDX2_HUMAN",
            "refseq_ac": "NP_001384335",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ferredoxin-2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Adrenodoxin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Ferredoxin-1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "adrenodoxin-like protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ferredoxin 1 like",
                    "type": "synonym"
                },
                {
                    "name": "ferredoxin-2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FDX2",
                    "type": "recommended"
                },
                {
                    "name": "FDX1L",
                    "type": "synonym"
                },
                {
                    "name": "FDX2",
                    "type": "synonym"
                },
                {
                    "name": "MEOAL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P4F2-1",
            "evidence": [
                {
                    "id": "251900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/251900"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070734"
}