{
    "disease_id": "DOID:0111475",
    "recommended_name": {
        "id": "DOID:0111475",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111475",
        "name": "combined oxidative phosphorylation deficiency 39",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111475",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111475",
            "name": "COXPD39",
            "description": ""
        },
        {
            "id": "MONDO:0032726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032726",
            "name": "combined oxidative phosphorylation deficiency 39",
            "description": ""
        },
        {
            "id": "MONDO:0032726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032726",
            "name": "COXPD39",
            "description": ""
        },
        {
            "id": "MIM:618397",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618397",
            "name": "Combined oxidative phosphorylation deficiency 39",
            "description": "Combined oxidative phosphorylation deficiency 39"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111475"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111475",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111475",
            "categories": []
        },
        {
            "id": "MONDO:0032726",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032726",
            "categories": []
        },
        {
            "id": "MIM:618397",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618397",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "A0JMI9-1",
            "uniprot_ac": "A0JMI9",
            "uniprot_id": "RRF2M_DANRE",
            "refseq_ac": "NP_001071013",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                },
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                    "name": "3.6.5.-",
                    "type": "synonym"
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                },
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                },
                {
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                    "type": "synonym"
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                    "name": "RRF2mt",
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                },
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                    "type": "synonym"
                },
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                    "type": "recommended"
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                    "name": "EF-G2mt",
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                    "name": "gfm2",
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                    "type": "synonym"
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                    "name": "si:dkey-35i22.3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153835",
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                }
            ],
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            "uniprot_ac": "Q8R2Q4",
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            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
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                },
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                    "type": "synonym"
                }
            ],
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                    "name": "Gfm2",
                    "type": "recommended"
                },
                {
                    "name": "6530419G12Rik",
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                    "name": "A930009M04Rik",
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            ],
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            ]
        },
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                }
            ],
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                    "name": "G elongation factor mitochondrial 2",
                    "type": "synonym"
                },
                {
                    "name": "RRF2mt",
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                {
                    "name": "hEFG2",
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                },
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                    "type": "synonym"
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                {
                    "name": "mitochondrial elongation factor G2",
                    "type": "synonym"
                },
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                    "name": "mitochondrial ribosome recycling factor 2",
                    "type": "synonym"
                },
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                    "type": "synonym"
                },
                {
                    "name": "ribosome releasing factor 2",
                    "type": "synonym"
                },
                {
                    "name": "ribosome-releasing factor 2, mitochondrial isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "ribosome-releasing factor 2, mitochondrial",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "GFM2",
                    "type": "recommended"
                },
                {
                    "name": "EF-G2mt",
                    "type": "synonym"
                },
                {
                    "name": "EFG2",
                    "type": "synonym"
                },
                {
                    "name": "GFM2",
                    "type": "synonym"
                },
                {
                    "name": "MRRF2",
                    "type": "synonym"
                },
                {
                    "name": "MST027",
                    "type": "synonym"
                },
                {
                    "name": "MSTP027",
                    "type": "synonym"
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                {
                    "name": "RRF2mt",
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                {
                    "name": "RRF2",
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                    "name": "RRF",
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                },
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                {
                    "name": "mEF-G 2",
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                },
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                }
            ]
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        {
            "uniprot_canonical_ac": "P39677-1",
            "uniprot_ac": "P39677",
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            "refseq_ac": "NP_012433",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                }
            ],
            "protein_names": [
                {
                    "name": "Ribosome-releasing factor 2, mitochondrial",
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                    "name": "MEF2",
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                    "name": "D819",
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                {
                    "name": "J0826",
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        },
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            "uniprot_canonical_ac": "Q5BJP6-1",
            "uniprot_ac": "Q5BJP6",
            "uniprot_id": "RRF2M_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Ribosome-releasing factor 2, mitochondrial",
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            ],
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                    "name": "Gfm2",
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                    "name": "Drosophila melanogaster",
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            ],
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                    "name": "mitochondrial ribosome recycling factor 2, isoform A",
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                    "name": "mRRF2",
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                    "name": "CG31159",
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                },
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                    "name": "CG6943",
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                    "name": "Dmel\\CG31159",
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                    "name": "Dmel_CG31159",
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                    "name": "EF-G2",
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                    "id": "0111475",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111475"
}