{
    "disease_id": "DOID:0111468",
    "recommended_name": {
        "id": "DOID:0111468",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111468",
        "name": "combined oxidative phosphorylation deficiency 25",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111468",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111468",
            "name": "COXPD25",
            "description": ""
        },
        {
            "id": "MONDO:0014636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014636",
            "name": "combined oxidative phosphorylation defect type 25",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene."
        },
        {
            "id": "MONDO:0014636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014636",
            "name": "COXPD25",
            "description": ""
        },
        {
            "id": "MONDO:0014636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014636",
            "name": "MARS2 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014636",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in MARS2",
            "description": ""
        },
        {
            "id": "MONDO:0014636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014636",
            "name": "combined oxidative phosphorylation deficiency type 25",
            "description": ""
        },
        {
            "id": "MONDO:0014636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014636",
            "name": "combined oxidative phosphorylation deficiency 25",
            "description": ""
        },
        {
            "id": "MIM:616430",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616430",
            "name": "Combined oxidative phosphorylation deficiency 25",
            "description": "Combined oxidative phosphorylation deficiency 25"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111468"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111468",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111468",
            "categories": []
        },
        {
            "id": "MONDO:0014636",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014636",
            "categories": []
        },
        {
            "id": "MIM:616430",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616430",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q9I2-1",
            "uniprot_ac": "A0A8M9Q9I2",
            "uniprot_id": "A0A8M9Q9I2_DANRE",
            "refseq_ac": "XP_021329980",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase 2",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mars2",
                    "type": "recommended"
                },
                {
                    "name": "mars2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q9I2-1",
            "evidence": [
                {
                    "id": "0111468",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111468"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q499X9-1",
            "uniprot_ac": "Q499X9",
            "uniprot_id": "SYMM_MOUSE",
            "refseq_ac": "NP_780648",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase 2",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "MtMetRS",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase 2",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "methionyl-tRNA synthetase 2",
                    "type": "synonym"
                },
                {
                    "name": "methionyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial methionine--tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "mtMetRS",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mars2",
                    "type": "recommended"
                },
                {
                    "name": "C730026E21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mars2",
                    "type": "synonym"
                },
                {
                    "name": "MetRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q499X9-1",
            "evidence": [
                {
                    "id": "0111468",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111468"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96GW9-1",
            "uniprot_ac": "Q96GW9",
            "uniprot_id": "SYMM_HUMAN",
            "refseq_ac": "NP_612404",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase 2",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "MtMetRS",
                    "type": "synonym"
                },
                {
                    "name": "methionine tRNA ligase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase 2",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "methionine-tRNA synthetase 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MARS2",
                    "type": "recommended"
                },
                {
                    "name": "COXPD25",
                    "type": "synonym"
                },
                {
                    "name": "MARS2",
                    "type": "synonym"
                },
                {
                    "name": "MetRS",
                    "type": "synonym"
                },
                {
                    "name": "mtMetRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96GW9-1",
            "evidence": [
                {
                    "id": "616430",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616430"
                },
                {
                    "id": "0111468",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111468"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22438-1",
            "uniprot_ac": "P22438",
            "uniprot_id": "SYMM_YEAST",
            "refseq_ac": "NP_011687",
            "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": "Methionine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "MetRS",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase MSM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSM1",
                    "type": "recommended"
                },
                {
                    "name": "MSM1",
                    "type": "synonym"
                }
            ],
            "record_id": "P22438-1",
            "evidence": [
                {
                    "id": "0111468",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111468"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A9V7-1",
            "uniprot_ac": "D4A9V7",
            "uniprot_id": "D4A9V7_RAT",
            "refseq_ac": "XP_003750747",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase 2",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase, mitochondrial isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mars2",
                    "type": "recommended"
                },
                {
                    "name": "Mars2",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A9V7-1",
            "evidence": [
                {
                    "id": "0111468",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111468"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VFL5-1",
            "uniprot_ac": "Q9VFL5",
            "uniprot_id": "SYMM_DROME",
            "refseq_ac": "NP_001262564",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "CG31322-PB",
                    "type": "synonym"
                },
                {
                    "name": "MetRS-m-PB",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase, mitochondrial, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "MtMetRS",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial methionyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MetRS-m",
                    "type": "recommended"
                },
                {
                    "name": "Aats-Met",
                    "type": "synonym"
                },
                {
                    "name": "Aats-met-m",
                    "type": "synonym"
                },
                {
                    "name": "Aats-met",
                    "type": "synonym"
                },
                {
                    "name": "CG31322",
                    "type": "synonym"
                },
                {
                    "name": "CG8684",
                    "type": "synonym"
                },
                {
                    "name": "CG9612",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31322",
                    "type": "synonym"
                },
                {
                    "name": "MRS",
                    "type": "synonym"
                },
                {
                    "name": "MetRS-m",
                    "type": "synonym"
                },
                {
                    "name": "MetRS",
                    "type": "synonym"
                },
                {
                    "name": "dMARS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VFL5-1",
            "evidence": [
                {
                    "id": "0111468",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111468"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111468"
}