{
    "disease_id": "DOID:0111525",
    "recommended_name": {
        "id": "DOID:0111525",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111525",
        "name": "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4",
        "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111525",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111525",
            "name": "autosomal dominant progressive external ophthalmoplegia 4",
            "description": ""
        },
        {
            "id": "DOID:0111525",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111525",
            "name": "PEOA4",
            "description": ""
        },
        {
            "id": "MONDO:0012415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012415",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4",
            "description": "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene."
        },
        {
            "id": "MONDO:0012415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012415",
            "name": "POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions",
            "description": ""
        },
        {
            "id": "MONDO:0012415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012415",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2",
            "description": ""
        },
        {
            "id": "MONDO:0012415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012415",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4",
            "description": ""
        },
        {
            "id": "MONDO:0012415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012415",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012415",
            "name": "PEOA4",
            "description": ""
        },
        {
            "id": "MIM:610131",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610131",
            "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4",
            "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111525"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111525",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111525",
            "categories": []
        },
        {
            "id": "MONDO:0012415",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012415",
            "categories": []
        },
        {
            "id": "MIM:610131",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610131",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5J8-1",
            "uniprot_ac": "A0ACD6B5J8",
            "uniprot_id": "A0ACD6B5J8_DANRE",
            "refseq_ac": "XP_001922359",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase subunit gamma-2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "polg2",
                    "type": "recommended"
                },
                {
                    "name": "polg2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5J8-1",
            "evidence": [
                {
                    "id": "0111525",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111525"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZM2-1",
            "uniprot_ac": "Q9QZM2",
            "uniprot_id": "DPOG2_MOUSE",
            "refseq_ac": "NP_056625",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase subunit gamma-2",
                    "type": "recommended"
                },
                {
                    "name": "DNA polymerase gamma accessory 55 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase subunit gamma-2 isoform 1a",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase subunit gamma-2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial DNA polymerase accessory subunit",
                    "type": "synonym"
                },
                {
                    "name": "MtPolB",
                    "type": "synonym"
                },
                {
                    "name": "PolG-beta",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial DNA polymerase accessory subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial polymerase gamma 2",
                    "type": "synonym"
                },
                {
                    "name": "p55",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polg2",
                    "type": "recommended"
                },
                {
                    "name": "Mtpolb",
                    "type": "synonym"
                },
                {
                    "name": "Polg2",
                    "type": "synonym"
                },
                {
                    "name": "mtPolB",
                    "type": "synonym"
                },
                {
                    "name": "p55",
                    "type": "synonym"
                },
                {
                    "name": "polG-beta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZM2-1",
            "evidence": [
                {
                    "id": "0111525",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111525"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UHN1-1",
            "uniprot_ac": "Q9UHN1",
            "uniprot_id": "DPOG2_HUMAN",
            "refseq_ac": "NP_009146",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase subunit gamma-2",
                    "type": "recommended"
                },
                {
                    "name": "DNA polymerase gamma accessory 55 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase subunit gamma-2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial DNA polymerase accessory subunit",
                    "type": "synonym"
                },
                {
                    "name": "MtPolB",
                    "type": "synonym"
                },
                {
                    "name": "PolG-beta",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial DNA polymerase subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial DNA polymerase, accessory subunit",
                    "type": "synonym"
                },
                {
                    "name": "p55",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA directed), gamma 2, accessory subunit",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA) gamma 2, accessory subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POLG2",
                    "type": "recommended"
                },
                {
                    "name": "HP55",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS16A",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS16B",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS16",
                    "type": "synonym"
                },
                {
                    "name": "MTPOLB",
                    "type": "synonym"
                },
                {
                    "name": "PEOA4",
                    "type": "synonym"
                },
                {
                    "name": "POLG-BETA",
                    "type": "synonym"
                },
                {
                    "name": "POLG2",
                    "type": "synonym"
                },
                {
                    "name": "POLGB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UHN1-1",
            "evidence": [
                {
                    "id": "610131",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610131"
                },
                {
                    "id": "0111525",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111525"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZYP7-1",
            "uniprot_ac": "D3ZYP7",
            "uniprot_id": "D3ZYP7_RAT",
            "refseq_ac": "NP_001100530",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase subunit gamma-2",
                    "type": "recommended"
                },
                {
                    "name": "DNA polymerase gamma accessory 55 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase subunit gamma-2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial DNA polymerase accessory subunit",
                    "type": "synonym"
                },
                {
                    "name": "MtPolB",
                    "type": "synonym"
                },
                {
                    "name": "PolG-beta",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA directed), gamma 2, accessory subunit",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA) gamma 2, accessory subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polg2",
                    "type": "recommended"
                },
                {
                    "name": "Polg2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZYP7-1",
            "evidence": [
                {
                    "id": "0111525",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111525"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJV8-1",
            "uniprot_ac": "Q9VJV8",
            "uniprot_id": "DPOG2_DROME",
            "refseq_ac": "NP_001027262",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase subunit gamma-2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG33650-PA",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase -gamma",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase gamma 35kD subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase gamma subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase gamma subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase gamma",
                    "type": "synonym"
                },
                {
                    "name": "PolG2-PA",
                    "type": "synonym"
                },
                {
                    "name": "accessory subunit of mitochondrial DNA polymerase",
                    "type": "synonym"
                },
                {
                    "name": "accessory(beta)subunit",
                    "type": "synonym"
                },
                {
                    "name": "beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "lethal 16 in the black-reduced region",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)34De",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial DNA polymerase accessory subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial gamma polymerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PolG2",
                    "type": "recommended"
                },
                {
                    "name": "BG:DS00941.9",
                    "type": "synonym"
                },
                {
                    "name": "CG33084",
                    "type": "synonym"
                },
                {
                    "name": "CG33650",
                    "type": "synonym"
                },
                {
                    "name": "CG8969",
                    "type": "synonym"
                },
                {
                    "name": "D-pol gamma-beta",
                    "type": "synonym"
                },
                {
                    "name": "DNA pol-gam.35",
                    "type": "synonym"
                },
                {
                    "name": "DNApol-gamma.35",
                    "type": "synonym"
                },
                {
                    "name": "DNApol-gamma35",
                    "type": "synonym"
                },
                {
                    "name": "DNApol-gamma",
                    "type": "synonym"
                },
                {
                    "name": "DNApolG2",
                    "type": "synonym"
                },
                {
                    "name": "DNApolg-35",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33650",
                    "type": "synonym"
                },
                {
                    "name": "MtPolB",
                    "type": "synonym"
                },
                {
                    "name": "POLG",
                    "type": "synonym"
                },
                {
                    "name": "Pol gamma",
                    "type": "synonym"
                },
                {
                    "name": "PolG2",
                    "type": "synonym"
                },
                {
                    "name": "PolG",
                    "type": "synonym"
                },
                {
                    "name": "Polgamma-35",
                    "type": "synonym"
                },
                {
                    "name": "Polgamma-beta",
                    "type": "synonym"
                },
                {
                    "name": "Polgamma",
                    "type": "synonym"
                },
                {
                    "name": "Polg",
                    "type": "synonym"
                },
                {
                    "name": "br16",
                    "type": "synonym"
                },
                {
                    "name": "l(2)34De",
                    "type": "synonym"
                },
                {
                    "name": "l(2)br16",
                    "type": "synonym"
                },
                {
                    "name": "pol gamma-alpha",
                    "type": "synonym"
                },
                {
                    "name": "pol gamma-beta",
                    "type": "synonym"
                },
                {
                    "name": "pol gamma35",
                    "type": "synonym"
                },
                {
                    "name": "polgamma-beta",
                    "type": "synonym"
                },
                {
                    "name": "polgamma",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJV8-1",
            "evidence": [
                {
                    "id": "0111525",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111525"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111525"
}