{
    "disease_id": "DOID:0111516",
    "recommended_name": {
        "id": "DOID:0111516",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111516",
        "name": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4",
        "description": "A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111516",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111516",
            "name": "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111516",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111516",
            "name": "PEOB4",
            "description": ""
        },
        {
            "id": "DOID:0111516",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111516",
            "name": "autosomal recessive progressive external ophthalmoplegia 4",
            "description": ""
        },
        {
            "id": "DOID:0111516",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111516",
            "name": "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014899",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4",
            "description": "An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism."
        },
        {
            "id": "MONDO:0014899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014899",
            "name": "PEOB4",
            "description": ""
        },
        {
            "id": "MONDO:0014899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014899",
            "name": "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014899",
            "name": "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014899",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4",
            "description": ""
        },
        {
            "id": "MONDO:0014899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014899",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4",
            "description": ""
        },
        {
            "id": "MIM:617070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617070",
            "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4",
            "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111516"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111516",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111516",
            "categories": []
        },
        {
            "id": "MONDO:0014899",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014899",
            "categories": []
        },
        {
            "id": "MIM:617070",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617070",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A5WUY2-1",
            "uniprot_ac": "A5WUY2",
            "uniprot_id": "A5WUY2_DANRE",
            "refseq_ac": "NP_001093561",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "deoxyguanosine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.113",
                    "type": "synonym"
                },
                {
                    "name": "deoxyguanosine kinase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dguok",
                    "type": "recommended"
                },
                {
                    "name": "dguok",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86625",
                    "type": "synonym"
                }
            ],
            "record_id": "A5WUY2-1",
            "evidence": [
                {
                    "id": "0111516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QX60-1",
            "uniprot_ac": "Q9QX60",
            "uniprot_id": "DGUOK_MOUSE",
            "refseq_ac": "NP_038792",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxyguanosine kinase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.113",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.76",
                    "type": "synonym"
                },
                {
                    "name": "Deoxyadenosine kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "deoxyadenosine kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "deoxyguanosine kinase, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "deoxyguanosine kinase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dguok",
                    "type": "recommended"
                },
                {
                    "name": "Dgk",
                    "type": "synonym"
                },
                {
                    "name": "Dguok",
                    "type": "synonym"
                },
                {
                    "name": "dGK1",
                    "type": "synonym"
                },
                {
                    "name": "dGK2",
                    "type": "synonym"
                },
                {
                    "name": "dGK3",
                    "type": "synonym"
                },
                {
                    "name": "dGK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QX60-1",
            "evidence": [
                {
                    "id": "0111516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16854-1",
            "uniprot_ac": "Q16854",
            "uniprot_id": "DGUOK_HUMAN",
            "refseq_ac": "NP_001305788",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxyguanosine kinase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.113",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.76",
                    "type": "synonym"
                },
                {
                    "name": "Deoxyadenosine kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "deoxyadenosine kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "deoxyguanosine kinase, mitochondrial isoform c precursor",
                    "type": "synonym"
                },
                {
                    "name": "deoxyguanosine kinase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DGUOK",
                    "type": "recommended"
                },
                {
                    "name": "DGK",
                    "type": "synonym"
                },
                {
                    "name": "DGUOK",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS3",
                    "type": "synonym"
                },
                {
                    "name": "NCPH1",
                    "type": "synonym"
                },
                {
                    "name": "NCPH",
                    "type": "synonym"
                },
                {
                    "name": "PEOB4",
                    "type": "synonym"
                },
                {
                    "name": "dGK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16854-1",
            "evidence": [
                {
                    "id": "617070",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617070"
                },
                {
                    "id": "0111516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZDE4-1",
            "uniprot_ac": "D3ZDE4",
            "uniprot_id": "D3ZDE4_RAT",
            "refseq_ac": "XP_038963265",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxyguanosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "deoxyguanosine kinase, mitochondrial isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dguok",
                    "type": "recommended"
                },
                {
                    "name": "Dguok",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZDE4-1",
            "evidence": [
                {
                    "id": "0111516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41135-1",
            "uniprot_ac": "P41135",
            "uniprot_id": "ID1_RAT",
            "refseq_ac": "NP_036929",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-binding protein inhibitor ID-1",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding protein inhibitor ID-1",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of DNA binding 1 helix-loop-helix protein (splice varaiation)",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of DNA binding 1, helix-loop-helix protein (splice variation)",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of DNA binding 1",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of differentiation 1",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of DNA binding 1, HLH protein",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of DNA binding 1, dominant negative helix-loop-helix protein",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of differentiation 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Id1",
                    "type": "recommended"
                },
                {
                    "name": "ID125A",
                    "type": "synonym"
                },
                {
                    "name": "Id-1",
                    "type": "synonym"
                },
                {
                    "name": "Id1",
                    "type": "synonym"
                },
                {
                    "name": "Idb1",
                    "type": "synonym"
                }
            ],
            "record_id": "P41135-1",
            "evidence": [
                {
                    "id": "0111516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111516"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111516"
}