{
    "disease_id": "DOID:0111490",
    "recommended_name": {
        "id": "DOID:0111490",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111490",
        "name": "combined oxidative phosphorylation deficiency 26",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111490",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111490",
            "name": "COXPD26",
            "description": ""
        },
        {
            "id": "MONDO:0014684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014684",
            "name": "combined oxidative phosphorylation defect type 26",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene."
        },
        {
            "id": "MONDO:0014684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014684",
            "name": "COXPD26",
            "description": ""
        },
        {
            "id": "MONDO:0014684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014684",
            "name": "TRMT5 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014684",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in TRMT5",
            "description": ""
        },
        {
            "id": "MONDO:0014684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014684",
            "name": "combined oxidative phosphorylation deficiency type 26",
            "description": ""
        },
        {
            "id": "MONDO:0014684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014684",
            "name": "combined oxidative phosphorylation deficiency 26",
            "description": ""
        },
        {
            "id": "MIM:616539",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616539",
            "name": "Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay",
            "description": "Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111490"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111490",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111490",
            "categories": []
        },
        {
            "id": "MONDO:0014684",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014684",
            "categories": []
        },
        {
            "id": "MIM:616539",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616539",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8A5G9-1",
            "uniprot_ac": "B8A5G9",
            "uniprot_id": "TRM5_DANRE",
            "refseq_ac": "NP_001139055",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (guanine(37)-N(1))-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.228",
                    "type": "synonym"
                },
                {
                    "name": "M1G-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "TRM5 tRNA methyltransferase 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(37)-N(1))-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine-N(1)-)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA [GM37] methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 5 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trmt5",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-202m24.6",
                    "type": "synonym"
                },
                {
                    "name": "trm5",
                    "type": "synonym"
                },
                {
                    "name": "trmt5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi28b08",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A5G9-1",
            "evidence": [
                {
                    "id": "0111490",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111490"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D0C4-1",
            "uniprot_ac": "Q9D0C4",
            "uniprot_id": "TRM5_MOUSE",
            "refseq_ac": "NP_083856",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (guanine(37)-N(1))-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.228",
                    "type": "synonym"
                },
                {
                    "name": "M1G-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "TRM5 tRNA methyltransferase 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(37)-N(1))-methyltransferase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(37)-N(1))-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(37)-N1)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine-N(1)-)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA [GM37] methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 5 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trmt5",
                    "type": "recommended"
                },
                {
                    "name": "2610027O18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1393",
                    "type": "synonym"
                },
                {
                    "name": "Trm5",
                    "type": "synonym"
                },
                {
                    "name": "Trmt5",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1393",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D0C4-1",
            "evidence": [
                {
                    "id": "0111490",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111490"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q32P41-1",
            "uniprot_ac": "Q32P41",
            "uniprot_id": "TRM5_HUMAN",
            "refseq_ac": "NP_065861",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (guanine(37)-N(1))-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.228",
                    "type": "synonym"
                },
                {
                    "name": "M1G-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "TRM5 tRNA methyltransferase 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(37)-N(1))-methyltransferase isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(37)-N(1))-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(37)-N1)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine-N(1)-)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA [GM37] methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-N1G37 methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRMT5",
                    "type": "recommended"
                },
                {
                    "name": "COXPD26",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1393",
                    "type": "synonym"
                },
                {
                    "name": "PNSED",
                    "type": "synonym"
                },
                {
                    "name": "TRM5",
                    "type": "synonym"
                },
                {
                    "name": "TRMT5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q32P41-1",
            "evidence": [
                {
                    "id": "616539",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616539"
                },
                {
                    "id": "0111490",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111490"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38793-1",
            "uniprot_ac": "P38793",
            "uniprot_id": "TRM5_YEAST",
            "refseq_ac": "NP_011937",
            "glycoprotein": "yes",
            "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 (guanine(37)-N(1))-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.228",
                    "type": "synonym"
                },
                {
                    "name": "M1G-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine) methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA [GM37] methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRM5",
                    "type": "recommended"
                },
                {
                    "name": "TRM5",
                    "type": "synonym"
                }
            ],
            "record_id": "P38793-1",
            "evidence": [
                {
                    "id": "0111490",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111490"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JU45-1",
            "uniprot_ac": "A0A0G2JU45",
            "uniprot_id": "A0A0G2JU45_RAT",
            "refseq_ac": "XP_038968435",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (guanine(37)-N1)-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.228",
                    "type": "synonym"
                },
                {
                    "name": "M1G-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(37)-N1)-methyltransferase isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA [GM37] methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 5 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trmt5",
                    "type": "recommended"
                },
                {
                    "name": "RGD1306567",
                    "type": "synonym"
                },
                {
                    "name": "TRM5",
                    "type": "synonym"
                },
                {
                    "name": "TRMT5",
                    "type": "synonym"
                },
                {
                    "name": "Trmt5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JU45-1",
            "evidence": [
                {
                    "id": "0111490",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111490"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IRE4-1",
            "uniprot_ac": "Q8IRE4",
            "uniprot_id": "TRM5_DROME",
            "refseq_ac": "NP_728821",
            "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 (guanine(37)-N(1))-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.228",
                    "type": "synonym"
                },
                {
                    "name": "CG32281-PA",
                    "type": "synonym"
                },
                {
                    "name": "M1G-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA [GM37] methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG12032",
                    "type": "synonym"
                },
                {
                    "name": "CG32281",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32281",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IRE4-1",
            "evidence": [
                {
                    "id": "0111490",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111490"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111490"
}