{
    "disease_id": "DOID:0111486",
    "recommended_name": {
        "id": "DOID:0111486",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111486",
        "name": "combined oxidative phosphorylation deficiency 3",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111486",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111486",
            "name": "COXPD3",
            "description": ""
        },
        {
            "id": "DOID:0111486",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111486",
            "name": "Fatal mitochondrial disease due to COXPD3",
            "description": ""
        },
        {
            "id": "DOID:0111486",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111486",
            "name": "encephalomyopathy, respiratory failure, and lactic acidosis",
            "description": ""
        },
        {
            "id": "DOID:0111486",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111486",
            "name": "concentric cardiomyopathy, hypotonia, and lactic acidosis",
            "description": ""
        },
        {
            "id": "DOID:0111486",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111486",
            "name": "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012512",
            "name": "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3",
            "description": "Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy."
        },
        {
            "id": "MONDO:0012512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012512",
            "name": "TSFM combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012512",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in TSFM",
            "description": ""
        },
        {
            "id": "MONDO:0012512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012512",
            "name": "combined oxidative phosphorylation deficiency type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012512",
            "name": "fatal mitochondrial disease due to COXPD3",
            "description": ""
        },
        {
            "id": "MONDO:0012512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012512",
            "name": "COXPD3",
            "description": ""
        },
        {
            "id": "MONDO:0012512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012512",
            "name": "combined oxidative phosphorylation deficiency 3",
            "description": ""
        },
        {
            "id": "MIM:610505",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610505",
            "name": "Combined oxidative phosphorylation deficiency 3",
            "description": "Combined oxidative phosphorylation deficiency 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111486"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111486",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111486",
            "categories": []
        },
        {
            "id": "MONDO:0012512",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012512",
            "categories": []
        },
        {
            "id": "MIM:610505",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610505",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A1A5Z3-1",
            "uniprot_ac": "A1A5Z3",
            "uniprot_id": "EFTS_DANRE",
            "refseq_ac": "NP_001073504",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor Ts, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "EF-TsMt",
                    "type": "synonym"
                },
                {
                    "name": "EF-Ts",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor Ts, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tsfm",
                    "type": "recommended"
                },
                {
                    "name": "EF-TsMt",
                    "type": "synonym"
                },
                {
                    "name": "EF-Ts",
                    "type": "synonym"
                },
                {
                    "name": "tsfm",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158429",
                    "type": "synonym"
                }
            ],
            "record_id": "A1A5Z3-1",
            "evidence": [
                {
                    "id": "0111486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CZR8-1",
            "uniprot_ac": "Q9CZR8",
            "uniprot_id": "EFTS_MOUSE",
            "refseq_ac": "NP_079813",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor Ts, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "EF-TsMt",
                    "type": "synonym"
                },
                {
                    "name": "EF-Ts",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor Ts, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor Ts, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsfm",
                    "type": "recommended"
                },
                {
                    "name": "2310050B20Rik",
                    "type": "synonym"
                },
                {
                    "name": "9430024O13Rik",
                    "type": "synonym"
                },
                {
                    "name": "EF-TS",
                    "type": "synonym"
                },
                {
                    "name": "EF-Tsmt",
                    "type": "synonym"
                },
                {
                    "name": "Tsfm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CZR8-1",
            "evidence": [
                {
                    "id": "0111486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43897-1",
            "uniprot_ac": "P43897",
            "uniprot_id": "EFTS_HUMAN",
            "refseq_ac": "NP_001166166",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor Ts, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "EF-TsMt",
                    "type": "synonym"
                },
                {
                    "name": "EF-Ts",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor Ts, mitochondrial isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial elongation factor Ts",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSFM",
                    "type": "recommended"
                },
                {
                    "name": "EFTSMT",
                    "type": "synonym"
                },
                {
                    "name": "EFTS",
                    "type": "synonym"
                },
                {
                    "name": "TSFM",
                    "type": "synonym"
                }
            ],
            "record_id": "P43897-1",
            "evidence": [
                {
                    "id": "610505",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610505"
                },
                {
                    "id": "0111486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYU2-1",
            "uniprot_ac": "Q9QYU2",
            "uniprot_id": "EFTS_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor Ts, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2A3-2",
                    "type": "synonym"
                },
                {
                    "name": "EF-TsMt",
                    "type": "synonym"
                },
                {
                    "name": "EF-Ts",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsfm",
                    "type": "recommended"
                },
                {
                    "name": "TSFM",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYU2-1",
            "evidence": [
                {
                    "id": "0111486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJC7-1",
            "uniprot_ac": "Q9VJC7",
            "uniprot_id": "EFTS_DROME",
            "refseq_ac": "NP_609847",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor Ts, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG6412-PA",
                    "type": "synonym"
                },
                {
                    "name": "EF-TsMt",
                    "type": "synonym"
                },
                {
                    "name": "EF-Ts",
                    "type": "synonym"
                },
                {
                    "name": "mEFTs-PA",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial translation elongation factor Ts",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mEFTs",
                    "type": "recommended"
                },
                {
                    "name": "CG6412",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6412",
                    "type": "synonym"
                },
                {
                    "name": "mEFTs",
                    "type": "synonym"
                },
                {
                    "name": "mtEF-Ts",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJC7-1",
            "evidence": [
                {
                    "id": "0111486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111486"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111486"
}