{
    "disease_id": "DOID:0111494",
    "recommended_name": {
        "id": "DOID:0111494",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111494",
        "name": "combined oxidative phosphorylation deficiency 4",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111494",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111494",
            "name": "COXPD4",
            "description": ""
        },
        {
            "id": "MONDO:0012534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012534",
            "name": "combined oxidative phosphorylation defect type 4",
            "description": "Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy."
        },
        {
            "id": "MONDO:0012534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012534",
            "name": "COXPD4",
            "description": ""
        },
        {
            "id": "MONDO:0012534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012534",
            "name": "TUFM combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012534",
            "name": "combined oxidative phosphorylation defect type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012534",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in TUFM",
            "description": ""
        },
        {
            "id": "MONDO:0012534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012534",
            "name": "combined oxidative phosphorylation deficiency type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012534",
            "name": "combined oxidative phosphorylation deficiency 4",
            "description": ""
        },
        {
            "id": "MIM:610678",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610678",
            "name": "Combined oxidative phosphorylation deficiency 4",
            "description": "Combined oxidative phosphorylation deficiency 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111494"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111494",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111494",
            "categories": []
        },
        {
            "id": "MONDO:0012534",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012534",
            "categories": []
        },
        {
            "id": "MIM:610678",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610678",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BFR5-1",
            "uniprot_ac": "Q8BFR5",
            "uniprot_id": "EFTU_MOUSE",
            "refseq_ac": "NP_001157185",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor Tu, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.3",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor Tu, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor Tu, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tufm",
                    "type": "recommended"
                },
                {
                    "name": "2300002G02Rik",
                    "type": "synonym"
                },
                {
                    "name": "EF-TuMT",
                    "type": "synonym"
                },
                {
                    "name": "EFTU",
                    "type": "synonym"
                },
                {
                    "name": "Tufm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BFR5-1",
            "evidence": [
                {
                    "id": "0111494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49411-1",
            "uniprot_ac": "P49411",
            "uniprot_id": "EFTU_HUMAN",
            "refseq_ac": "NP_003312",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor Tu, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.3",
                    "type": "synonym"
                },
                {
                    "name": "EF-Tu",
                    "type": "synonym"
                },
                {
                    "name": "P43",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor Tu, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor Tu, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUFM",
                    "type": "recommended"
                },
                {
                    "name": "COXPD4",
                    "type": "synonym"
                },
                {
                    "name": "EF-TuMT",
                    "type": "synonym"
                },
                {
                    "name": "EFTU",
                    "type": "synonym"
                },
                {
                    "name": "P43",
                    "type": "synonym"
                },
                {
                    "name": "TUFM",
                    "type": "synonym"
                }
            ],
            "record_id": "P49411-1",
            "evidence": [
                {
                    "id": "610678",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610678"
                },
                {
                    "id": "0111494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02992-1",
            "uniprot_ac": "P02992",
            "uniprot_id": "EFTU_YEAST",
            "refseq_ac": "NP_014830",
            "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": "Elongation factor Tu, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.3",
                    "type": "synonym"
                },
                {
                    "name": "EF-Tu",
                    "type": "synonym"
                },
                {
                    "name": "translation elongation factor Tu",
                    "type": "synonym"
                },
                {
                    "name": "tufM",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUF1",
                    "type": "recommended"
                },
                {
                    "name": "TUF1",
                    "type": "synonym"
                },
                {
                    "name": "TUFM",
                    "type": "synonym"
                }
            ],
            "record_id": "P02992-1",
            "evidence": [
                {
                    "id": "0111494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P85834-1",
            "uniprot_ac": "P85834",
            "uniprot_id": "EFTU_RAT",
            "refseq_ac": "NP_001099765",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor Tu, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.3",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor Tu, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor Tu, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tufm",
                    "type": "recommended"
                },
                {
                    "name": "Tufm",
                    "type": "synonym"
                }
            ],
            "record_id": "P85834-1",
            "evidence": [
                {
                    "id": "0111494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9E3-1",
            "uniprot_ac": "A1Z9E3",
            "uniprot_id": "A1Z9E3_DROME",
            "refseq_ac": "NP_001163144",
            "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 Tu",
                    "type": "recommended"
                },
                {
                    "name": "CG6050-PB",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor Tu mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mEFTu1-PB",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial translation elongation factor Tu 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "translation elongation factor Tu",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mEFTu1",
                    "type": "recommended"
                },
                {
                    "name": "CG6050",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6050",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6050",
                    "type": "synonym"
                },
                {
                    "name": "EF-Tu1",
                    "type": "synonym"
                },
                {
                    "name": "EfTuM",
                    "type": "synonym"
                },
                {
                    "name": "TUFm",
                    "type": "synonym"
                },
                {
                    "name": "dTUFm",
                    "type": "synonym"
                },
                {
                    "name": "efTuM",
                    "type": "synonym"
                },
                {
                    "name": "eftu-M",
                    "type": "synonym"
                },
                {
                    "name": "l(3)L4569",
                    "type": "synonym"
                },
                {
                    "name": "mEFTu1",
                    "type": "synonym"
                },
                {
                    "name": "mtEF-Tu",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z9E3-1",
            "evidence": [
                {
                    "id": "0111494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111494"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111494"
}