{
    "disease_id": "DOID:0060286",
    "recommended_name": {
        "id": "DOID:0060286",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060286",
        "name": "combined oxidative phosphorylation deficiency",
        "description": "A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction."
    },
    "synonyms": [
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1",
            "description": "Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement."
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "GFM1 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "Hepatoencephalopathy due to COXPD1",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in GFM1",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "combined oxidative phosphorylation deficiency type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "COXPD1",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "combined oxidative phosphorylation deficiency 1",
            "description": ""
        },
        {
            "id": "MIM:609060",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609060",
            "name": "Combined oxidative phosphorylation deficiency 1",
            "description": "Combined oxidative phosphorylation deficiency 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0070424",
            "label": "combined oxidative phosphorylation deficiency 44",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070425",
            "label": "combined oxidative phosphorylation deficiency 52",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070426",
            "label": "combined oxidative phosphorylation deficiency 53",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070427",
            "label": "combined oxidative phosphorylation deficiency 54",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070428",
            "label": "combined oxidative phosphorylation deficiency 55",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070429",
            "label": "combined oxidative phosphorylation deficiency 56",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070430",
            "label": "combined oxidative phosphorylation deficiency 57",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111464",
            "label": "combined oxidative phosphorylation deficiency 35",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111465",
            "label": "combined oxidative phosphorylation deficiency 21",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111466",
            "label": "combined oxidative phosphorylation deficiency 38",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111467",
            "label": "combined oxidative phosphorylation deficiency 13",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111468",
            "label": "combined oxidative phosphorylation deficiency 25",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111469",
            "label": "combined oxidative phosphorylation deficiency 16",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111470",
            "label": "combined oxidative phosphorylation deficiency 28",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111471",
            "label": "combined oxidative phosphorylation deficiency 30",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111472",
            "label": "combined oxidative phosphorylation deficiency 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111473",
            "label": "combined oxidative phosphorylation deficiency 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111474",
            "label": "combined oxidative phosphorylation deficiency 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111475",
            "label": "combined oxidative phosphorylation deficiency 39",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111476",
            "label": "combined oxidative phosphorylation deficiency 19",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111477",
            "label": "combined oxidative phosphorylation deficiency 14",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111478",
            "label": "combined oxidative phosphorylation deficiency 20",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111479",
            "label": "combined oxidative phosphorylation deficiency 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111480",
            "label": "combined oxidative phosphorylation deficiency 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111481",
            "label": "combined oxidative phosphorylation deficiency 11",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111482",
            "label": "combined oxidative phosphorylation deficiency 36",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111483",
            "label": "combined oxidative phosphorylation deficiency 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111484",
            "label": "combined oxidative phosphorylation deficiency 18",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111485",
            "label": "combined oxidative phosphorylation deficiency 24",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111486",
            "label": "combined oxidative phosphorylation deficiency 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111487",
            "label": "combined oxidative phosphorylation deficiency 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111488",
            "label": "combined oxidative phosphorylation deficiency 31",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111489",
            "label": "combined oxidative phosphorylation deficiency 27",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111490",
            "label": "combined oxidative phosphorylation deficiency 26",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111491",
            "label": "combined oxidative phosphorylation deficiency 15",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111492",
            "label": "combined oxidative phosphorylation deficiency 32",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111493",
            "label": "combined oxidative phosphorylation deficiency 12",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111494",
            "label": "combined oxidative phosphorylation deficiency 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111495",
            "label": "combined oxidative phosphorylation deficiency 33",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111496",
            "label": "combined oxidative phosphorylation deficiency 17",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111497",
            "label": "combined oxidative phosphorylation deficiency 34",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111498",
            "label": "combined oxidative phosphorylation deficiency 22",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111499",
            "label": "combined oxidative phosphorylation deficiency 37",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111500",
            "label": "combined oxidative phosphorylation deficiency 23",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111501",
            "label": "combined oxidative phosphorylation deficiency 29",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111502",
            "label": "combined oxidative phosphorylation deficiency 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112110",
            "label": "combined oxidative phosphorylation deficiency 49",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112111",
            "label": "combined oxidative phosphorylation deficiency 50",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112112",
            "label": "combined oxidative phosphorylation deficiency 48",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112113",
            "label": "combined oxidative phosphorylation deficiency 45",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112114",
            "label": "combined oxidative phosphorylation deficiency 47",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112115",
            "label": "combined oxidative phosphorylation deficiency 46",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112116",
            "label": "combined oxidative phosphorylation deficiency 43",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112117",
            "label": "combined oxidative phosphorylation deficiency 40",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112118",
            "label": "combined oxidative phosphorylation deficiency 42",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112119",
            "label": "combined oxidative phosphorylation deficiency 41",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112137",
            "label": "combined oxidative phosphorylation deficiency 51",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0112110",
        "DOID:0111469",
        "DOID:0112115",
        "DOID:0070426",
        "DOID:0111476",
        "DOID:0111474",
        "DOID:0111486",
        "DOID:0070427",
        "DOID:0111478",
        "DOID:0070424",
        "DOID:0111492",
        "DOID:0111464",
        "DOID:0111495",
        "DOID:0111481",
        "DOID:0111482",
        "DOID:0112117",
        "DOID:0112116",
        "DOID:0112113",
        "DOID:0111496",
        "DOID:0111491",
        "DOID:0111466",
        "DOID:0111477",
        "DOID:0111473",
        "DOID:0111465",
        "DOID:0112112",
        "DOID:0112118",
        "DOID:0111485",
        "DOID:0111502",
        "DOID:0111487",
        "DOID:0111493",
        "DOID:0111494",
        "DOID:0111471",
        "DOID:0111489",
        "DOID:0111484",
        "DOID:0111501",
        "DOID:0112119",
        "DOID:0111483",
        "DOID:0070430",
        "DOID:0111480",
        "DOID:0070428",
        "DOID:0111468",
        "DOID:0112111",
        "DOID:0112137",
        "DOID:0070429",
        "DOID:0111479",
        "DOID:0111472",
        "DOID:0111467",
        "DOID:0111490",
        "DOID:0112114",
        "DOID:0111470",
        "DOID:0111497",
        "DOID:0070425",
        "DOID:0111488",
        "DOID:0111498",
        "DOID:0111499",
        "DOID:0111475",
        "DOID:0060286",
        "DOID:0111500"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060286",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060286",
            "categories": []
        },
        {
            "id": "MONDO:0012191",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "categories": []
        },
        {
            "id": "MIM:609060",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609060",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7UR43-1",
            "uniprot_ac": "A0A8N7UR43",
            "uniprot_id": "A0A8N7UR43_DANRE",
            "refseq_ac": "XP_021331610",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAST kinase domain-containing protein 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fastkd2",
                    "type": "recommended"
                },
                {
                    "name": "fastkd2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UR43-1",
            "evidence": [
                {
                    "id": "0060286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060286"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0P4D6-1",
            "uniprot_ac": "Q0P4D6",
            "uniprot_id": "TEFM_DANRE",
            "refseq_ac": "NP_001073495",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription elongation factor, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "transcription elongation factor, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tefm",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-10p5.4",
                    "type": "synonym"
                },
                {
                    "name": "tefm",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153083",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0P4D6-1",
            "evidence": [
                {
                    "id": "0060286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060286"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3B787-1",
            "uniprot_ac": "A0A8M3B787",
            "uniprot_id": "A0A8M3B787_DANRE",
            "refseq_ac": "XP_009304746",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "5-taurinomethyluridine-[tRNA] synthase subunit MTO1, mitochondrial isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mto1",
                    "type": "recommended"
                },
                {
                    "name": "mto1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158782",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B787-1",
            "evidence": [
                {
                    "id": "0060286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060286"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q923Z3-1",
            "uniprot_ac": "Q923Z3",
            "uniprot_id": "MTO1_MOUSE",
            "refseq_ac": "NP_080934",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "5-taurinomethyluridine-[tRNA] synthase subunit MTO1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "5-taurinomethyluridine-[tRNA] synthase subunit MTO1, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "5-taurinomethyluridine-[tRNA] synthase subunit MTO1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial tRNA translation optimization 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein MTO1 homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial translation optimization 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein MTO1 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mto1",
                    "type": "recommended"
                },
                {
                    "name": "2310039H01Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730419A02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mto1",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0060286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060286"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SSK3-1",
            "uniprot_ac": "Q5SSK3",
            "uniprot_id": "TEFM_MOUSE",
            "refseq_ac": "NP_899098",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription elongation factor, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "transcription elongation factor, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tefm",
                    "type": "recommended"
                },
                {
                    "name": "1110002N22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tefm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SSK3-1",
            "evidence": [
                {
                    "id": "0060286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060286"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JKF7-1",
            "uniprot_ac": "Q9JKF7",
            "uniprot_id": "RM39_MOUSE",
            "refseq_ac": "NP_059100",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein mL39",
                    "type": "recommended"
                },
                {
                    "name": "39S ribosomal protein L39, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "L39mt",
                    "type": "synonym"
                },
                {
                    "name": "MRP-L39",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein mL39 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein mL39",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein, mitochondrial, L5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrpl39",
                    "type": "recommended"
                },
                {
                    "name": "C21orf8",
                    "type": "synonym"
                },
                {
                    "name": "MRP-L5",
                    "type": "synonym"
                },
                {
                    "name": "Mrpl39",
                    "type": "synonym"
                },
                {
                    "name": "ORF22",
                    "type": "synonym"
                },
                {
                    "name": "Rpml5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKF7-1",
            "evidence": [
                {
                    "id": "0060286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060286"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q922E6-1",
            "uniprot_ac": "Q922E6",
            "uniprot_id": "FAKD2_MOUSE",
            "refseq_ac": "NP_766010",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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}