{
    "disease_id": "DOID:0111480",
    "recommended_name": {
        "id": "DOID:0111480",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111480",
        "name": "combined oxidative phosphorylation deficiency 10",
        "description": "A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111480",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111480",
            "name": "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111480",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111480",
            "name": "COXPD10",
            "description": ""
        },
        {
            "id": "DOID:0111480",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111480",
            "name": "infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis",
            "description": ""
        },
        {
            "id": "MONDO:0013865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "name": "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency",
            "description": "A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia."
        },
        {
            "id": "MONDO:0013865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "name": "COXPD10",
            "description": ""
        },
        {
            "id": "MONDO:0013865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "name": "MTO1 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "name": "combined oxidative phosphorylation defect type 10",
            "description": ""
        },
        {
            "id": "MONDO:0013865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in MTO1",
            "description": ""
        },
        {
            "id": "MONDO:0013865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "name": "combined oxidative phosphorylation deficiency type 10",
            "description": ""
        },
        {
            "id": "MONDO:0013865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "name": "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "name": "combined oxidative phosphorylation deficiency 10",
            "description": ""
        },
        {
            "id": "MIM:614702",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614702",
            "name": "Combined oxidative phosphorylation deficiency 10",
            "description": "Combined oxidative phosphorylation deficiency 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111480"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111480",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111480",
            "categories": []
        },
        {
            "id": "MONDO:0013865",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013865",
            "categories": []
        },
        {
            "id": "MIM:614702",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614702",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0111480",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111480"
                }
            ]
        },
        {
            "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"
                }
            ],
            "record_id": "Q923Z3-1",
            "evidence": [
                {
                    "id": "0111480",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111480"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2Z2-1",
            "uniprot_ac": "Q9Y2Z2",
            "uniprot_id": "MTO1_HUMAN",
            "refseq_ac": "NP_001116698",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "5-taurinomethyluridine-[tRNA] synthase subunit MTO1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "5-taurinomethyluridine-[tRNA] synthase subunit MTO1, mitochondrial isoform c",
                    "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": "homolog of yeast Mto1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial MTO1-3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial translation optimization 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein MTO1 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MTO1",
                    "type": "recommended"
                },
                {
                    "name": "CGI-02",
                    "type": "synonym"
                },
                {
                    "name": "COXPD10",
                    "type": "synonym"
                },
                {
                    "name": "MTO1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2Z2-1",
            "evidence": [
                {
                    "id": "614702",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614702"
                },
                {
                    "id": "0111480",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111480"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53070-1",
            "uniprot_ac": "P53070",
            "uniprot_id": "MTO1_YEAST",
            "refseq_ac": "NP_011278",
            "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": "Mitochondrial translation optimization protein 1",
                    "type": "recommended"
                },
                {
                    "name": "tRNA modification protein MTO1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MTO1",
                    "type": "recommended"
                },
                {
                    "name": "IPS1",
                    "type": "synonym"
                },
                {
                    "name": "MTO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53070-1",
            "evidence": [
                {
                    "id": "0111480",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111480"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LYH3-1",
            "uniprot_ac": "F1LYH3",
            "uniprot_id": "F1LYH3_RAT",
            "refseq_ac": "NP_001100311",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "5-taurinomethyluridine-[tRNA] synthase subunit MTO1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "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": "Mto1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LYH3-1",
            "evidence": [
                {
                    "id": "0111480",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111480"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W245-1",
            "uniprot_ac": "Q9W245",
            "uniprot_id": "Q9W245_DROME",
            "refseq_ac": "NP_611677",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA uridine 5-carboxymethylaminomethyl modification enzyme C-terminal subdomain domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG4610-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG4610",
                    "type": "recommended"
                },
                {
                    "name": "CG4610",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4610",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4610",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W245-1",
            "evidence": [
                {
                    "id": "0111480",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111480"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111480"
}