{
    "disease_id": "DOID:0111523",
    "recommended_name": {
        "id": "DOID:0111523",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111523",
        "name": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3",
        "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21."
    },
    "synonyms": [
        {
            "id": "DOID:0111523",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111523",
            "name": "autosomal recessive progressive external ophthalmoplegia 3",
            "description": ""
        },
        {
            "id": "DOID:0111523",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111523",
            "name": "PEOB3",
            "description": ""
        },
        {
            "id": "MONDO:0014898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014898",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3",
            "description": "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene."
        },
        {
            "id": "MONDO:0014898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014898",
            "name": "PEOB3",
            "description": ""
        },
        {
            "id": "MONDO:0014898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014898",
            "name": "TK2 autosomal recessive progressive external ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014898",
            "name": "autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2",
            "description": ""
        },
        {
            "id": "MONDO:0014898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014898",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3",
            "description": ""
        },
        {
            "id": "MONDO:0014898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014898",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3",
            "description": ""
        },
        {
            "id": "MONDO:0014898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014898",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3",
            "description": ""
        },
        {
            "id": "MIM:617069",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617069",
            "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3",
            "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111523"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111523",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111523",
            "categories": []
        },
        {
            "id": "MONDO:0014898",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014898",
            "categories": []
        },
        {
            "id": "MIM:617069",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617069",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N0Z5-1",
            "uniprot_ac": "A0A8M1N0Z5",
            "uniprot_id": "A0A8M1N0Z5_DANRE",
            "refseq_ac": "NP_001002743",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thymidine kinase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2'-deoxyuridine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.21",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.74",
                    "type": "synonym"
                },
                {
                    "name": "Deoxycytidine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "thymidine kinase 2, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "thymidine kinase 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tk2",
                    "type": "recommended"
                },
                {
                    "name": "tk2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100948",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N0Z5-1",
            "evidence": [
                {
                    "id": "0111523",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111523"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R088-1",
            "uniprot_ac": "Q9R088",
            "uniprot_id": "KITM_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thymidine kinase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2'-deoxyuridine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.21",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.74",
                    "type": "synonym"
                },
                {
                    "name": "Deoxycytidine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "Mt-TK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tk2",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9R088-1",
            "evidence": [
                {
                    "id": "0111523",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111523"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00142-1",
            "uniprot_ac": "O00142",
            "uniprot_id": "KITM_HUMAN",
            "refseq_ac": "NP_001166114",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thymidine kinase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2'-deoxyuridine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.21",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.74",
                    "type": "synonym"
                },
                {
                    "name": "Deoxycytidine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "Mt-TK",
                    "type": "synonym"
                },
                {
                    "name": "deoxycytidine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial thymidine kinase",
                    "type": "synonym"
                },
                {
                    "name": "mt-TK",
                    "type": "synonym"
                },
                {
                    "name": "thymidine kinase 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "thymidine kinase 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TK2",
                    "type": "recommended"
                },
                {
                    "name": "MTDPS2",
                    "type": "synonym"
                },
                {
                    "name": "MTTK",
                    "type": "synonym"
                },
                {
                    "name": "PEOB3",
                    "type": "synonym"
                },
                {
                    "name": "SCA31",
                    "type": "synonym"
                },
                {
                    "name": "TK2-EXT",
                    "type": "synonym"
                },
                {
                    "name": "TK2",
                    "type": "synonym"
                }
            ],
            "record_id": "O00142-1",
            "evidence": [
                {
                    "id": "617069",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617069"
                },
                {
                    "id": "0111523",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111523"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZGQ2-1",
            "uniprot_ac": "D3ZGQ2",
            "uniprot_id": "D3ZGQ2_RAT",
            "refseq_ac": "NP_001099636",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thymidine kinase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2'-deoxyuridine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.21",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.74",
                    "type": "synonym"
                },
                {
                    "name": "Deoxycytidine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "thymidine kinase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "thymidine kinase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tk2",
                    "type": "recommended"
                },
                {
                    "name": "Tk2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZGQ2-1",
            "evidence": [
                {
                    "id": "0111523",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111523"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9XZT6-1",
            "uniprot_ac": "Q9XZT6",
            "uniprot_id": "DNK_DROME",
            "refseq_ac": "NP_001262722",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxynucleoside kinase",
                    "type": "recommended"
                },
                {
                    "name": "2'-deoxynucleoside kinase",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.145",
                    "type": "synonym"
                },
                {
                    "name": "CG5452-PB",
                    "type": "synonym"
                },
                {
                    "name": "Deoxyribonucleoside kinase",
                    "type": "synonym"
                },
                {
                    "name": "Dm-dNK",
                    "type": "synonym"
                },
                {
                    "name": "Multispecific deoxynucleoside kinase",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonucleoside kinase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonucleoside",
                    "type": "synonym"
                },
                {
                    "name": "dnk-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnk",
                    "type": "recommended"
                },
                {
                    "name": "CG5452",
                    "type": "synonym"
                },
                {
                    "name": "DM-dNK",
                    "type": "synonym"
                },
                {
                    "name": "DNK",
                    "type": "synonym"
                },
                {
                    "name": "Dm-dNK",
                    "type": "synonym"
                },
                {
                    "name": "DmdNK",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5452",
                    "type": "synonym"
                },
                {
                    "name": "dNK",
                    "type": "synonym"
                },
                {
                    "name": "dnk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9XZT6-1",
            "evidence": [
                {
                    "id": "0111523",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111523"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111523"
}