{
    "disease_id": "DOID:0111524",
    "recommended_name": {
        "id": "DOID:0111524",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111524",
        "name": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5",
        "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111524",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111524",
            "name": "PEOB5",
            "description": ""
        },
        {
            "id": "DOID:0111524",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111524",
            "name": "autosomal recessive progressive external ophthalmoplegia 5",
            "description": ""
        },
        {
            "id": "MONDO:0020845",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020845",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5",
            "description": ""
        },
        {
            "id": "MONDO:0020845",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020845",
            "name": "PEOB5",
            "description": ""
        },
        {
            "id": "MONDO:0020845",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020845",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5",
            "description": ""
        },
        {
            "id": "MONDO:0020845",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020845",
            "name": "progressive external ophthalmoplegia, autosomal recessive 5",
            "description": ""
        },
        {
            "id": "MIM:618098",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618098",
            "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5",
            "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111524"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111524",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111524",
            "categories": []
        },
        {
            "id": "MONDO:0020845",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020845",
            "categories": []
        },
        {
            "id": "MIM:618098",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618098",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "X1WCF3-1",
            "uniprot_ac": "X1WCF3",
            "uniprot_id": "X1WCF3_DANRE",
            "refseq_ac": "XP_688695",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA topoisomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA topoisomerase 3-alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "top3a",
                    "type": "recommended"
                },
                {
                    "name": "top3a",
                    "type": "synonym"
                }
            ],
            "record_id": "X1WCF3-1",
            "evidence": [
                {
                    "id": "0111524",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111524"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70157-1",
            "uniprot_ac": "O70157",
            "uniprot_id": "TOP3A_MOUSE",
            "refseq_ac": "NP_033436",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA topoisomerase 3-alpha",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA topoisomerase 3-alpha",
                    "type": "synonym"
                },
                {
                    "name": "DNA topoisomerase III alpha",
                    "type": "synonym"
                },
                {
                    "name": "Top IIIa",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase (DNA) 3 alpha",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase 3 alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Top3a",
                    "type": "recommended"
                },
                {
                    "name": "Top3a",
                    "type": "synonym"
                },
                {
                    "name": "Top3",
                    "type": "synonym"
                }
            ],
            "record_id": "O70157-1",
            "evidence": [
                {
                    "id": "0111524",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111524"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13472-1",
            "uniprot_ac": "Q13472",
            "uniprot_id": "TOP3A_HUMAN",
            "refseq_ac": "NP_001307688",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA topoisomerase 3-alpha",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA topoisomerase 3-alpha isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA topoisomerase 3-alpha",
                    "type": "synonym"
                },
                {
                    "name": "DNA topoisomerase III alpha",
                    "type": "synonym"
                },
                {
                    "name": "topo III-alpha",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase (DNA) III alpha",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, GRF-type containing 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TOP3A",
                    "type": "recommended"
                },
                {
                    "name": "MGRISCE2",
                    "type": "synonym"
                },
                {
                    "name": "PEOB5",
                    "type": "synonym"
                },
                {
                    "name": "TOP3A",
                    "type": "synonym"
                },
                {
                    "name": "TOP3",
                    "type": "synonym"
                },
                {
                    "name": "ZGRF7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13472-1",
            "evidence": [
                {
                    "id": "618098",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618098"
                },
                {
                    "id": "0111524",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111524"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13099-1",
            "uniprot_ac": "P13099",
            "uniprot_id": "TOP3_YEAST",
            "refseq_ac": "NP_013335",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA topoisomerase 3",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA topoisomerase 3",
                    "type": "synonym"
                },
                {
                    "name": "DNA topoisomerase III",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TOP3",
                    "type": "recommended"
                },
                {
                    "name": "EDR1",
                    "type": "synonym"
                },
                {
                    "name": "L8083.3",
                    "type": "synonym"
                },
                {
                    "name": "TOP3",
                    "type": "synonym"
                }
            ],
            "record_id": "P13099-1",
            "evidence": [
                {
                    "id": "0111524",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111524"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A6J4-1",
            "uniprot_ac": "D4A6J4",
            "uniprot_id": "D4A6J4_RAT",
            "refseq_ac": "NP_001414385",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA topoisomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA topoisomerase 3-alpha",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase (DNA) III alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Top3a",
                    "type": "recommended"
                },
                {
                    "name": "Top3a",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A6J4-1",
            "evidence": [
                {
                    "id": "0111524",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111524"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NG98-1",
            "uniprot_ac": "Q9NG98",
            "uniprot_id": "TOP3A_DROME",
            "refseq_ac": "NP_523602",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA topoisomerase 3-alpha",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "CG10123-PA",
                    "type": "synonym"
                },
                {
                    "name": "DNA topoisomerase III alpha",
                    "type": "synonym"
                },
                {
                    "name": "Top 3alpha",
                    "type": "synonym"
                },
                {
                    "name": "Top3alpha-PA",
                    "type": "synonym"
                },
                {
                    "name": "Topoisomerase3alpha",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase 3-alpha",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase 3alpha",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase IIIalpha",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase IIIa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Top3alpha",
                    "type": "recommended"
                },
                {
                    "name": "CG10123",
                    "type": "synonym"
                },
                {
                    "name": "DmTop3alpha",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10123",
                    "type": "synonym"
                },
                {
                    "name": "Top3alpha",
                    "type": "synonym"
                },
                {
                    "name": "Top3a",
                    "type": "synonym"
                },
                {
                    "name": "Topo IIIalpha",
                    "type": "synonym"
                },
                {
                    "name": "dTopoIIIa",
                    "type": "synonym"
                },
                {
                    "name": "top3alpha",
                    "type": "synonym"
                },
                {
                    "name": "top3a",
                    "type": "synonym"
                },
                {
                    "name": "topo IIIalpha",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NG98-1",
            "evidence": [
                {
                    "id": "0111524",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111524"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111524"
}