{
    "disease_id": "DOID:0111515",
    "recommended_name": {
        "id": "DOID:0111515",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111515",
        "name": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2",
        "description": "A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111515",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111515",
            "name": "PEOB2",
            "description": ""
        },
        {
            "id": "DOID:0111515",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111515",
            "name": "adult-onset CPEO with mitochondrial myopathy",
            "description": ""
        },
        {
            "id": "DOID:0111515",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111515",
            "name": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy",
            "description": ""
        },
        {
            "id": "DOID:0111515",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111515",
            "name": "autosomal recessive progressive external ophthalmoplegia 2",
            "description": ""
        },
        {
            "id": "MONDO:0014656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014656",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2",
            "description": "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene."
        },
        {
            "id": "MONDO:0014656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014656",
            "name": "RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions",
            "description": ""
        },
        {
            "id": "MONDO:0014656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014656",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1",
            "description": ""
        },
        {
            "id": "MONDO:0014656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014656",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2",
            "description": ""
        },
        {
            "id": "MONDO:0014656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014656",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014656",
            "name": "PEOB2",
            "description": ""
        },
        {
            "id": "MIM:616479",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616479",
            "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2",
            "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111515"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111515",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111515",
            "categories": []
        },
        {
            "id": "MONDO:0014656",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014656",
            "categories": []
        },
        {
            "id": "MIM:616479",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616479",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N0V4-1",
            "uniprot_ac": "A0A8M1N0V4",
            "uniprot_id": "A0A8M1N0V4_DANRE",
            "refseq_ac": "NP_001002659",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribonuclease H1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.4",
                    "type": "synonym"
                },
                {
                    "name": "RNase H1",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease H1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rnaseh1",
                    "type": "recommended"
                },
                {
                    "name": "rnaseh1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91971",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N0V4-1",
            "evidence": [
                {
                    "id": "0111515",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111515"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70338-1",
            "uniprot_ac": "O70338",
            "uniprot_id": "RNH1_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": "Ribonuclease H1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.4",
                    "type": "synonym"
                },
                {
                    "name": "RNase H1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnaseh1",
                    "type": "recommended"
                },
                {
                    "name": "Rnh1",
                    "type": "synonym"
                }
            ],
            "record_id": "O70338-1",
            "evidence": [
                {
                    "id": "0111515",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111515"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60930-1",
            "uniprot_ac": "O60930",
            "uniprot_id": "RNH1_HUMAN",
            "refseq_ac": "NP_002927",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribonuclease H1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.4",
                    "type": "synonym"
                },
                {
                    "name": "RNase H1",
                    "type": "synonym"
                },
                {
                    "name": "Ribonuclease H type II",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease H type II",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease H1 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNASEH1",
                    "type": "recommended"
                },
                {
                    "name": "H1RNA",
                    "type": "synonym"
                },
                {
                    "name": "PEOB2",
                    "type": "synonym"
                },
                {
                    "name": "RNASEH1",
                    "type": "synonym"
                },
                {
                    "name": "RNH1",
                    "type": "synonym"
                }
            ],
            "record_id": "O60930-1",
            "evidence": [
                {
                    "id": "616479",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616479"
                },
                {
                    "id": "0111515",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111515"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04740-1",
            "uniprot_ac": "Q04740",
            "uniprot_id": "RNH1_YEAST",
            "refseq_ac": "NP_013961",
            "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": "Ribonuclease H",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.4",
                    "type": "synonym"
                },
                {
                    "name": "RNA-DNA hybrid ribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "RNase H",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNH1",
                    "type": "recommended"
                },
                {
                    "name": "RNH1",
                    "type": "synonym"
                },
                {
                    "name": "YM9959.16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04740-1",
            "evidence": [
                {
                    "id": "0111515",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111515"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BK46-1",
            "uniprot_ac": "Q5BK46",
            "uniprot_id": "RNH1_RAT",
            "refseq_ac": "NP_001013115",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribonuclease H1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.4",
                    "type": "synonym"
                },
                {
                    "name": "RNase H1",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease H1 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnaseh1",
                    "type": "recommended"
                },
                {
                    "name": "Rnaseh1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BK46-1",
            "evidence": [
                {
                    "id": "0111515",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111515"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111515"
}