{
    "disease_id": "DOID:0111478",
    "recommended_name": {
        "id": "DOID:0111478",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111478",
        "name": "combined oxidative phosphorylation deficiency 20",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111478",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111478",
            "name": "COXPD20",
            "description": ""
        },
        {
            "id": "MONDO:0014397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014397",
            "name": "combined oxidative phosphorylation defect type 20",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene."
        },
        {
            "id": "MONDO:0014397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014397",
            "name": "COXPD20",
            "description": ""
        },
        {
            "id": "MONDO:0014397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014397",
            "name": "VARS2 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014397",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in VARS2",
            "description": ""
        },
        {
            "id": "MONDO:0014397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014397",
            "name": "combined oxidative phosphorylation deficiency type 20",
            "description": ""
        },
        {
            "id": "MONDO:0014397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014397",
            "name": "combined oxidative phosphorylation deficiency 20",
            "description": ""
        },
        {
            "id": "MIM:615917",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615917",
            "name": "Combined oxidative phosphorylation deficiency 20",
            "description": "Combined oxidative phosphorylation deficiency 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111478"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111478",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111478",
            "categories": []
        },
        {
            "id": "MONDO:0014397",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014397",
            "categories": []
        },
        {
            "id": "MIM:615917",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615917",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3U2A8-1",
            "uniprot_ac": "Q3U2A8",
            "uniprot_id": "SYVM_MOUSE",
            "refseq_ac": "NP_780346",
            "glycoprotein": "yes",
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                {
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                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Valine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.9",
                    "type": "synonym"
                },
                {
                    "name": "ValRS",
                    "type": "synonym"
                },
                {
                    "name": "Valyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "valRS",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "valyl-tRNA synthetase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "valyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vars2",
                    "type": "recommended"
                },
                {
                    "name": "1190004I24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1885",
                    "type": "synonym"
                },
                {
                    "name": "Vars2l",
                    "type": "synonym"
                },
                {
                    "name": "Vars2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1885",
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                }
            ],
            "record_id": "Q3U2A8-1",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111478"
                }
            ]
        },
        {
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            "uniprot_ac": "Q9Z1Q9",
            "uniprot_id": "SYVC_MOUSE",
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            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
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                }
            ],
            "protein_names": [
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                    "type": "recommended"
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                },
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                    "name": "Protein G7a",
                    "type": "synonym"
                },
                {
                    "name": "ValRS",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
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                },
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                },
                {
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                    "type": "synonym"
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            ],
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                    "name": "Vars1",
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "D17H6S56E",
                    "type": "synonym"
                },
                {
                    "name": "G7a",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "Vars2",
                    "type": "synonym"
                },
                {
                    "name": "Vars",
                    "type": "synonym"
                }
            ],
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5ST30-1",
            "uniprot_ac": "Q5ST30",
            "uniprot_id": "SYVM_HUMAN",
            "refseq_ac": "NP_001161205",
            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Valine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.9",
                    "type": "synonym"
                },
                {
                    "name": "ValRS",
                    "type": "synonym"
                },
                {
                    "name": "Valyl-tRNA synthetase-like",
                    "type": "synonym"
                },
                {
                    "name": "Valyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "valine tRNA ligase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "valine--tRNA ligase, mitochondrial isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "valyl-tRNA synthetase like",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "VARS2",
                    "type": "recommended"
                },
                {
                    "name": "COXPD20",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1885",
                    "type": "synonym"
                },
                {
                    "name": "VALRS",
                    "type": "synonym"
                },
                {
                    "name": "VARS2L",
                    "type": "synonym"
                },
                {
                    "name": "VARS2",
                    "type": "synonym"
                },
                {
                    "name": "VARSL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5ST30-1",
            "evidence": [
                {
                    "id": "615917",
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                    "url": "https://www.omim.org/entry/615917"
                },
                {
                    "id": "0111478",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111478"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07806-1",
            "uniprot_ac": "P07806",
            "uniprot_id": "SYV_YEAST",
            "refseq_ac": "NP_011608",
            "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": [
                {
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                    "name": "Valyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "valine--tRNA ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VAS1",
                    "type": "recommended"
                },
                {
                    "name": "VAS1",
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                }
            ],
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                    "id": "0111478",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6MG21-1",
            "uniprot_ac": "Q6MG21",
            "uniprot_id": "SYVM_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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            ],
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                {
                    "name": "Vars2",
                    "type": "recommended"
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            ],
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                    "id": "0111478",
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        {
            "uniprot_canonical_ac": "Q04462-1",
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                }
            ],
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            ],
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                    "name": "TrsVal",
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                    "id": "0111478",
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        {
            "uniprot_canonical_ac": "Q9VSR7-1",
            "uniprot_ac": "Q9VSR7",
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                    "name": "Drosophila melanogaster",
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                }
            ],
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                {
                    "name": "Valyl-tRNA synthetase, mitochondrial, isoform B",
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                },
                {
                    "name": "Valyl-tRNA synthetase",
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                    "name": "mitochondrial valyl-tRNA synthetase",
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            ],
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                },
                {
                    "name": "Dmel\\CG5660",
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                },
                {
                    "name": "Dmel_CG5660",
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                {
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                    "id": "0111478",
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            ]
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        {
            "uniprot_canonical_ac": "A0A0B4KF06-1",
            "uniprot_ac": "A0A0B4KF06",
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                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "Valyl-tRNA synthetase",
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                }
            ],
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                    "name": "Dmel_CG4062",
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                    "name": "VRS",
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                    "name": "ValRS",
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                {
                    "name": "aaRS(Val)",
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                    "name": "dVARS",
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                {
                    "name": "l(2)03531",
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                {
                    "name": "l(2)rI255",
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                {
                    "name": "ld45671",
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            ],
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                    "id": "0111478",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111478"
                }
            ]
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        {
            "uniprot_canonical_ac": "P26640-1",
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                    "name": "Homo sapiens",
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                }
            ],
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                    "name": "Valine--tRNA ligase",
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                    "name": "Valyl-tRNA synthetase",
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                    "name": "valRS",
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                {
                    "name": "valine tRNA ligase 1, cytoplasmic",
                    "type": "synonym"
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                {
                    "name": "valine--tRNA ligase",
                    "type": "synonym"
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                {
                    "name": "valyl-tRNA synthetase 2",
                    "type": "synonym"
                }
            ],
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                    "name": "VARS1",
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                },
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                    "name": "G7A",
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                },
                {
                    "name": "NDMSCA",
                    "type": "synonym"
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                    "name": "VARS1",
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                {
                    "name": "VARS2",
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                {
                    "name": "VARS",
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                }
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                {
                    "id": "0111478",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111478"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111478"
}