{
    "disease_id": "DOID:0111500",
    "recommended_name": {
        "id": "DOID:0111500",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111500",
        "name": "combined oxidative phosphorylation deficiency 23",
        "description": "A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111500",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111500",
            "name": "COXPD23",
            "description": ""
        },
        {
            "id": "MONDO:0014525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014525",
            "name": "combined oxidative phosphorylation defect type 23",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene."
        },
        {
            "id": "MONDO:0014525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014525",
            "name": "COXPD23",
            "description": ""
        },
        {
            "id": "MONDO:0014525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014525",
            "name": "GTPBP3 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014525",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in GTPBP3",
            "description": ""
        },
        {
            "id": "MONDO:0014525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014525",
            "name": "combined oxidative phosphorylation deficiency type 23",
            "description": ""
        },
        {
            "id": "MONDO:0014525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014525",
            "name": "combined oxidative phosphorylation deficiency 23",
            "description": ""
        },
        {
            "id": "MIM:616198",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616198",
            "name": "Combined oxidative phosphorylation deficiency 23",
            "description": "Combined oxidative phosphorylation deficiency 23"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111500"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111500",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111500",
            "categories": []
        },
        {
            "id": "MONDO:0014525",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014525",
            "categories": []
        },
        {
            "id": "MIM:616198",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616198",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q501Z5-1",
            "uniprot_ac": "Q501Z5",
            "uniprot_id": "GTPB3_DANRE",
            "refseq_ac": "NP_001018605",
            "glycoprotein": "yes",
            "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 GTPB3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "5-taurinomethyluridine-[tRNA] synthase subunit GTPB3, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "5-taurinomethyluridine-[tRNA] synthase subunit GTPB3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial GTP binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA modification GTPase GTPBP3, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gtpbp3",
                    "type": "recommended"
                },
                {
                    "name": "gtpbp3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112394",
                    "type": "synonym"
                }
            ],
            "record_id": "Q501Z5-1",
            "evidence": [
                {
                    "id": "0111500",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111500"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q923K4-1",
            "uniprot_ac": "Q923K4",
            "uniprot_id": "GTPB3_MOUSE",
            "refseq_ac": "NP_115933",
            "glycoprotein": "no",
            "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 GTPB3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "5-taurinomethyluridine-[tRNA] synthase subunit GTPB3, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "5-taurinomethyluridine-[tRNA] synthase subunit GTPB3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA modification GTPase GTPBP3, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gtpbp3",
                    "type": "recommended"
                },
                {
                    "name": "2410009F13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gtpbp3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q923K4-1",
            "evidence": [
                {
                    "id": "0111500",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111500"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q969Y2-1",
            "uniprot_ac": "Q969Y2",
            "uniprot_id": "GTPB3_HUMAN",
            "refseq_ac": "NP_001122327",
            "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 GTPB3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "5-taurinomethyluridine-[tRNA] synthase subunit GTPB3, mitochondrial isoform III",
                    "type": "synonym"
                },
                {
                    "name": "5-taurinomethyluridine-[tRNA] synthase subunit GTPB3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial GTP-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial GTP-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA modification GTPase GTPBP3, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GTPBP3",
                    "type": "recommended"
                },
                {
                    "name": "COXPD23",
                    "type": "synonym"
                },
                {
                    "name": "GTPBG3",
                    "type": "synonym"
                },
                {
                    "name": "GTPBP3",
                    "type": "synonym"
                },
                {
                    "name": "MSS1",
                    "type": "synonym"
                },
                {
                    "name": "MTGP1",
                    "type": "synonym"
                },
                {
                    "name": "THDF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q969Y2-1",
            "evidence": [
                {
                    "id": "616198",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616198"
                },
                {
                    "id": "0111500",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111500"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32559-1",
            "uniprot_ac": "P32559",
            "uniprot_id": "MSS1_YEAST",
            "refseq_ac": "NP_013736",
            "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": "tRNA modification GTPase MSS1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Mss1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSS1",
                    "type": "recommended"
                },
                {
                    "name": "MSS1",
                    "type": "synonym"
                },
                {
                    "name": "PET53",
                    "type": "synonym"
                },
                {
                    "name": "YM9711.13C",
                    "type": "synonym"
                }
            ],
            "record_id": "P32559-1",
            "evidence": [
                {
                    "id": "0111500",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111500"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PQQ1-1",
            "uniprot_ac": "Q5PQQ1",
            "uniprot_id": "GTPB3_RAT",
            "refseq_ac": "NP_001011919",
            "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 GTPB3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "5-taurinomethyluridine-[tRNA] synthase subunit GTPB3, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "5-taurinomethyluridine-[tRNA] synthase subunit GTPB3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "GTP binding protein 3 (mitochondrial)",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA modification GTPase GTPBP3, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gtpbp3",
                    "type": "recommended"
                },
                {
                    "name": "Gtpbp3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PQQ1-1",
            "evidence": [
                {
                    "id": "0111500",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111500"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VC87-1",
            "uniprot_ac": "Q9VC87",
            "uniprot_id": "Q9VC87_DROME",
            "refseq_ac": "NP_651251",
            "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 modification GTPase GTPBP3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG18528-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG18528",
                    "type": "recommended"
                },
                {
                    "name": "CG18528",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18528",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18528",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VC87-1",
            "evidence": [
                {
                    "id": "0111500",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111500"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111500"
}