{
    "disease_id": "DOID:0111522",
    "recommended_name": {
        "id": "DOID:0111522",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111522",
        "name": "autosomal recessive progressive external ophthalmoplegia 1",
        "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111522",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111522",
            "name": "PEOB1",
            "description": ""
        },
        {
            "id": "MONDO:0009783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009783",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
            "description": "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene."
        },
        {
            "id": "MONDO:0009783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009783",
            "name": "POLG autosomal recessive progressive external ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0009783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009783",
            "name": "autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG",
            "description": ""
        },
        {
            "id": "MONDO:0009783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009783",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MONDO:0009783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009783",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009783",
            "name": "PEOB1",
            "description": ""
        },
        {
            "id": "MONDO:0009783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009783",
            "name": "arPEO",
            "description": ""
        },
        {
            "id": "MONDO:0009783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009783",
            "name": "autosomal recessive progressive external ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0009783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009783",
            "name": "cerebellar ataxia infantile with progressive external ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0009783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009783",
            "name": "progressive external ophthalmoplegia with cerebellar ataxia infantile",
            "description": ""
        },
        {
            "id": "MIM:258450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/258450",
            "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1",
            "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111522"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111522",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111522",
            "categories": []
        },
        {
            "id": "MONDO:0009783",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009783",
            "categories": []
        },
        {
            "id": "MIM:258450",
            "database": "MIM",
            "url": "https://www.omim.org/entry/258450",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F8W5R6-1",
            "uniprot_ac": "F8W5R6",
            "uniprot_id": "F8W5R6_DANRE",
            "refseq_ac": "XP_001921130",
            "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-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase subunit gamma-1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial DNA polymerase catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "polg",
                    "type": "recommended"
                },
                {
                    "name": "polg",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W5R6-1",
            "evidence": [
                {
                    "id": "0111522",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111522"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54099-1",
            "uniprot_ac": "P54099",
            "uniprot_id": "DPOG1_MOUSE",
            "refseq_ac": "",
            "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-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "3'-5' exodeoxyribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.-",
                    "type": "synonym"
                },
                {
                    "name": "4.2.99.-",
                    "type": "synonym"
                },
                {
                    "name": "5'-deoxyribose-phosphate lyase",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial DNA polymerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "PolG-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PolgA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polg",
                    "type": "recommended"
                },
                {
                    "name": "Polg1",
                    "type": "synonym"
                }
            ],
            "record_id": "P54099-1",
            "evidence": [
                {
                    "id": "0111522",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111522"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54098-1",
            "uniprot_ac": "P54098",
            "uniprot_id": "DPOG1_HUMAN",
            "refseq_ac": "NP_001119603",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase subunit gamma-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "3'-5' exodeoxyribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.-",
                    "type": "synonym"
                },
                {
                    "name": "4.2.99.-",
                    "type": "synonym"
                },
                {
                    "name": "5'-deoxyribose-phosphate lyase",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase subunit gamma-1",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial DNA polymerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "PolG-alpha",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial DNA polymerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial polymerase gamma catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA directed), gamma",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA) gamma, catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POLG",
                    "type": "recommended"
                },
                {
                    "name": "MDP1",
                    "type": "synonym"
                },
                {
                    "name": "MIRAS",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS4A",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS4B",
                    "type": "synonym"
                },
                {
                    "name": "PEO",
                    "type": "synonym"
                },
                {
                    "name": "POLG1",
                    "type": "synonym"
                },
                {
                    "name": "POLGA",
                    "type": "synonym"
                },
                {
                    "name": "POLG",
                    "type": "synonym"
                },
                {
                    "name": "PolG-alpha",
                    "type": "synonym"
                },
                {
                    "name": "SANDO",
                    "type": "synonym"
                },
                {
                    "name": "SCAE",
                    "type": "synonym"
                }
            ],
            "record_id": "P54098-1",
            "evidence": [
                {
                    "id": "258450",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/258450"
                },
                {
                    "id": "0111522",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111522"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15801-1",
            "uniprot_ac": "P15801",
            "uniprot_id": "DPOG_YEAST",
            "refseq_ac": "NP_014975",
            "glycoprotein": "yes",
            "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 polymerase gamma",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed DNA polymerase gamma MIP1",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial DNA polymerase catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MIP1",
                    "type": "recommended"
                },
                {
                    "name": "MIP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P15801-1",
            "evidence": [
                {
                    "id": "0111522",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111522"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYV8-1",
            "uniprot_ac": "Q9QYV8",
            "uniprot_id": "DPOG1_RAT",
            "refseq_ac": "NP_445980",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase subunit gamma-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "3'-5' exodeoxyribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.-",
                    "type": "synonym"
                },
                {
                    "name": "4.2.99.-",
                    "type": "synonym"
                },
                {
                    "name": "5'-deoxyribose-phosphate lyase",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase subunit gamma-1",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed DNA polymerase gamma",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial DNA polymerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "PolG-alpha",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial DNA polymerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "polG-alpha",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA directed), gamma",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA) gamma, catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polg",
                    "type": "recommended"
                },
                {
                    "name": "Mip1",
                    "type": "synonym"
                },
                {
                    "name": "Polg1",
                    "type": "synonym"
                },
                {
                    "name": "Polg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYV8-1",
            "evidence": [
                {
                    "id": "0111522",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111522"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q27607-1",
            "uniprot_ac": "Q27607",
            "uniprot_id": "DPOG1_DROME",
            "refseq_ac": "NP_476821",
            "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-1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "3'-5' exodeoxyribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.-",
                    "type": "synonym"
                },
                {
                    "name": "CG8987-PA",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase gamma 125kD",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase gamma subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase gamma",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial DNA polymerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "PolG1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein tamas",
                    "type": "synonym"
                },
                {
                    "name": "alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "catalytic subunit of the mitochondrial DNA polymerase",
                    "type": "synonym"
                },
                {
                    "name": "catalytic(alpha)subunit",
                    "type": "synonym"
                },
                {
                    "name": "lethal 14 in the black-reduced region",
                    "type": "synonym"
                },
                {
                    "name": "lethal 5 in the black-reduced region",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)34Dc",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial gamma polymerase",
                    "type": "synonym"
                },
                {
                    "name": "mtDNA pol-gamma",
                    "type": "synonym"
                },
                {
                    "name": "mtDNA polymerase alpha",
                    "type": "synonym"
                },
                {
                    "name": "tamas",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PolG1",
                    "type": "recommended"
                },
                {
                    "name": "34Dc",
                    "type": "synonym"
                },
                {
                    "name": "AAC47658",
                    "type": "synonym"
                },
                {
                    "name": "BG:DS00941.6",
                    "type": "synonym"
                },
                {
                    "name": "CG8987",
                    "type": "synonym"
                },
                {
                    "name": "D-pol gamma-alpha",
                    "type": "synonym"
                },
                {
                    "name": "DNApol-gamma125",
                    "type": "synonym"
                },
                {
                    "name": "DNApol-gamma",
                    "type": "synonym"
                },
                {
                    "name": "DNApolG1",
                    "type": "synonym"
                },
                {
                    "name": "DmPOLgammaA",
                    "type": "synonym"
                },
                {
                    "name": "DmPolgammaA",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8987",
                    "type": "synonym"
                },
                {
                    "name": "MtPolA",
                    "type": "synonym"
                },
                {
                    "name": "POLGalpha",
                    "type": "synonym"
                },
                {
                    "name": "POLG",
                    "type": "synonym"
                },
                {
                    "name": "Pol gamma",
                    "type": "synonym"
                },
                {
                    "name": "PolG1",
                    "type": "synonym"
                },
                {
                    "name": "PolG",
                    "type": "synonym"
                },
                {
                    "name": "PolgA",
                    "type": "synonym"
                },
                {
                    "name": "Polgamma-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Polgamma",
                    "type": "synonym"
                },
                {
                    "name": "Polg",
                    "type": "synonym"
                },
                {
                    "name": "Tam",
                    "type": "synonym"
                },
                {
                    "name": "anon-34Dc",
                    "type": "synonym"
                },
                {
                    "name": "br5",
                    "type": "synonym"
                },
                {
                    "name": "cDNA 2",
                    "type": "synonym"
                },
                {
                    "name": "l(2)34Dc",
                    "type": "synonym"
                },
                {
                    "name": "l(2)br14",
                    "type": "synonym"
                },
                {
                    "name": "l(2)br5",
                    "type": "synonym"
                },
                {
                    "name": "l(2)brS",
                    "type": "synonym"
                },
                {
                    "name": "mtDNA pol",
                    "type": "synonym"
                },
                {
                    "name": "mtPolA",
                    "type": "synonym"
                },
                {
                    "name": "pol gamma-alpha",
                    "type": "synonym"
                },
                {
                    "name": "pol gamma",
                    "type": "synonym"
                },
                {
                    "name": "polgamma-alpha",
                    "type": "synonym"
                },
                {
                    "name": "polgamma",
                    "type": "synonym"
                },
                {
                    "name": "tam",
                    "type": "synonym"
                }
            ],
            "record_id": "Q27607-1",
            "evidence": [
                {
                    "id": "0111522",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111522"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111522"
}