{
    "disease_id": "DOID:0111517",
    "recommended_name": {
        "id": "DOID:0111517",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111517",
        "name": "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2",
        "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111517",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111517",
            "name": "PEOA2",
            "description": ""
        },
        {
            "id": "DOID:0111517",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111517",
            "name": "autosomal dominant progressive external ophthalmoplegia 2",
            "description": ""
        },
        {
            "id": "MONDO:0012238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012238",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2",
            "description": "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene."
        },
        {
            "id": "MONDO:0012238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012238",
            "name": "SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions",
            "description": ""
        },
        {
            "id": "MONDO:0012238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012238",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4",
            "description": ""
        },
        {
            "id": "MONDO:0012238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012238",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2",
            "description": ""
        },
        {
            "id": "MONDO:0012238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012238",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012238",
            "name": "PEOA2",
            "description": ""
        },
        {
            "id": "MIM:609283",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609283",
            "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2",
            "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111517"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111517",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111517",
            "categories": []
        },
        {
            "id": "MONDO:0012238",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012238",
            "categories": []
        },
        {
            "id": "MIM:609283",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609283",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "A0A8M1NEI2",
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                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "ADP/ATP translocase",
                    "type": "recommended"
                },
                {
                    "name": "ADP,ATP carrier protein",
                    "type": "synonym"
                },
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                    "name": "uncharacterized protein LOC100038774",
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                }
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                {
                    "name": "si:dkey-251i10.1",
                    "type": "recommended"
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                    "name": "si:dkey-251i10.1",
                    "type": "synonym"
                }
            ],
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                }
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            "uniprot_ac": "P48962",
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                }
            ],
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                },
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                    "type": "synonym"
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                    "name": "adenine nucleotide translocase-1",
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                    "name": "Slc25a4",
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                    "name": "Anc1",
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                    "name": "Slc25a4",
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            ],
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                    "type": "synonym"
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                    "name": "Adenine nucleotide translocator 2",
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                    "type": "synonym"
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                    "type": "synonym"
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                {
                    "name": "adenine nucleotide translocator 2, fibroblast",
                    "type": "synonym"
                }
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                {
                    "name": "Slc25a5",
                    "type": "recommended"
                },
                {
                    "name": "Aac2",
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                },
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                    "name": "Ant2",
                    "type": "synonym"
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                {
                    "name": "Slc25a5",
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                {
                    "id": "0111517",
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                }
            ]
        },
        {
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                {
                    "name": "Mus musculus",
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                }
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                {
                    "name": "Adenine nucleotide translocator 4",
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                {
                    "name": "Solute carrier family 25 member 31",
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                    "type": "synonym"
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                    "type": "synonym"
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                {
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                    "name": "Slc25a31",
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                {
                    "name": "1700034J06Rik",
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                {
                    "name": "Aac4",
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                {
                    "name": "Ant4",
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                    "name": "Sfec",
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            ],
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                    "id": "0111517",
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                }
            ]
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            "uniprot_canonical_ac": "P12235-1",
            "uniprot_ac": "P12235",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
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            ],
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                    "name": "ADP/ATP translocase 1",
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                {
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                    "name": "ADP/ATP translocase 1",
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                    "name": "Adenine nucleotide translocator 1",
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                {
                    "name": "adenine nucleotide translocator), member 4",
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                },
                {
                    "name": "heart/skeletal muscle ATP/ADP translocator",
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                },
                {
                    "name": "progressive external ophthalmoplegia 2",
                    "type": "synonym"
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                {
                    "name": "progressive external ophthalmoplegia 3",
                    "type": "synonym"
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                    "name": "solute carrier family 25 (mitochondrial carrier",
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                }
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                    "name": "SLC25A4",
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                    "name": "AAC1",
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                },
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                    "name": "ANT 1",
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                    "name": "ANT1",
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                {
                    "name": "ANT",
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                    "name": "MTDPS12A",
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                {
                    "name": "MTDPS12",
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                    "name": "PEO2",
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                    "name": "PEO3",
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                    "name": "PEOA2",
                    "type": "synonym"
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                    "id": "0111517",
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                    "name": "Adenine nucleotide translocator 2",
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                    "name": "Petite colonies protein 9",
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                    "name": "AAC2",
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                    "name": "PET9",
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                    "id": "0111517",
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                    "name": "ADP/ATP translocase 3",
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                    "name": "ADP/ATP carrier protein AAC3",
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                    "name": "ANT 3",
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                    "name": "Adenine nucleotide translocator 3",
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                    "name": "YBR0753",
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                    "id": "0111517",
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                    "name": "ADP/ATP translocase 1",
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                    "name": "Adenine nucleotide translocator 1",
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                    "name": "Solute carrier family 25 member 4",
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                    "name": "solute carrier family 25 (mitochondrial carrier",
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                    "name": "Ant1",
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                    "name": "Slc25a4",
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                    "id": "0111517",
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                }
            ]
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                }
            ],
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                    "name": "ADP/ATP translocase 2",
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                    "name": "ADP,ATP carrier protein 2",
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                {
                    "name": "ADP/ATP translocase 2",
                    "type": "synonym"
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                    "name": "ANT 2",
                    "type": "synonym"
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                    "name": "Adenine nucleotide translocator 2",
                    "type": "synonym"
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                    "name": "Solute carrier family 25 member 5",
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                    "name": "adenine nucleotide translocator), member 5",
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                {
                    "name": "solute carrier family 25 (mitochondrial carrier",
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}