{
    "disease_id": "DOID:0111471",
    "recommended_name": {
        "id": "DOID:0111471",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111471",
        "name": "combined oxidative phosphorylation deficiency 30",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111471",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111471",
            "name": "COXPD30",
            "description": ""
        },
        {
            "id": "MONDO:0014856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014856",
            "name": "combined oxidative phosphorylation defect type 30",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene."
        },
        {
            "id": "MONDO:0014856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014856",
            "name": "COXPD30",
            "description": ""
        },
        {
            "id": "MONDO:0014856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014856",
            "name": "TRMT10C combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014856",
            "name": "combined oxidative phosphorylation deficiency 30",
            "description": ""
        },
        {
            "id": "MONDO:0014856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014856",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in TRMT10C",
            "description": ""
        },
        {
            "id": "MONDO:0014856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014856",
            "name": "combined oxidative phosphorylation deficiency type 30",
            "description": ""
        },
        {
            "id": "MIM:616974",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616974",
            "name": "Combined oxidative phosphorylation deficiency 30",
            "description": "Combined oxidative phosphorylation deficiency 30"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111471"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111471",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111471",
            "categories": []
        },
        {
            "id": "MONDO:0014856",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014856",
            "categories": []
        },
        {
            "id": "MIM:616974",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616974",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8JM40-1",
            "uniprot_ac": "B8JM40",
            "uniprot_id": "B8JM40_DANRE",
            "refseq_ac": "NP_001007333",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA methyltransferase 10 homolog C",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.218",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.221",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ribonuclease P protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA (guanine-9-) methyltransferase domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA (guanine-9-)-methyltransferase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mRNA methyladenosine-N(1)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribonuclease P protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (adenine(9)-N(1))-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(9)-N(1))-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 10 homolog C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trmt10c",
                    "type": "recommended"
                },
                {
                    "name": "rg9mtd1",
                    "type": "synonym"
                },
                {
                    "name": "trmt10c",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb53e06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103570",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JM40-1",
            "evidence": [
                {
                    "id": "0111471",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111471"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UFY8-1",
            "uniprot_ac": "Q3UFY8",
            "uniprot_id": "TM10C_MOUSE",
            "refseq_ac": "NP_083368",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA methyltransferase 10 homolog C",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.218",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.221",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial RNase P protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ribonuclease P protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA (guanine-9-) methyltransferase domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA (guanine-9-)-methyltransferase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mRNA methyladenosine-N(1)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial RNase P protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribonuclease P protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (adenine(9)-N(1))-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(9)-N(1))-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 10 homolog C precursor",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 10 homolog C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trmt10c",
                    "type": "recommended"
                },
                {
                    "name": "1300018J16Rik",
                    "type": "synonym"
                },
                {
                    "name": "D16Ertd454e",
                    "type": "synonym"
                },
                {
                    "name": "Mrpp1",
                    "type": "synonym"
                },
                {
                    "name": "Rg9mtd1",
                    "type": "synonym"
                },
                {
                    "name": "Rnmtd1",
                    "type": "synonym"
                },
                {
                    "name": "Trmt10c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UFY8-1",
            "evidence": [
                {
                    "id": "0111471",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111471"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7L0Y3-1",
            "uniprot_ac": "Q7L0Y3",
            "uniprot_id": "TM10C_HUMAN",
            "refseq_ac": "NP_060289",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA methyltransferase 10 homolog C",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.218",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.221",
                    "type": "synonym"
                },
                {
                    "name": "HBV pre-S2 trans-regulated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial RNase P protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ribonuclease P protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA (guanine-9-) methyltransferase domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA (guanine-9-)-methyltransferase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-49",
                    "type": "synonym"
                },
                {
                    "name": "mRNA methyladenosine-N(1)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial RNase P subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribonuclease P protein 1",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-49",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (adenine(9)-N(1))-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(9)-N(1))-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 10 homolog C precursor",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 10 homolog C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRMT10C",
                    "type": "recommended"
                },
                {
                    "name": "COXPD30",
                    "type": "synonym"
                },
                {
                    "name": "HNYA",
                    "type": "synonym"
                },
                {
                    "name": "MRPP1",
                    "type": "synonym"
                },
                {
                    "name": "RG9MTD1",
                    "type": "synonym"
                },
                {
                    "name": "TRMT10C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7L0Y3-1",
            "evidence": [
                {
                    "id": "616974",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616974"
                },
                {
                    "id": "0111471",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111471"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U2R4-1",
            "uniprot_ac": "Q5U2R4",
            "uniprot_id": "TM10C_RAT",
            "refseq_ac": "NP_001008338",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA methyltransferase 10 homolog C",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.218",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.221",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial RNase P protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ribonuclease P protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA (guanine-9-) methyltransferase domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA (guanine-9-)-methyltransferase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mRNA methyladenosine-N(1)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial RNase P protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribonuclease P protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (adenine(9)-N(1))-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(9)-N(1))-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 10 homolog C precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trmt10c",
                    "type": "recommended"
                },
                {
                    "name": "Mrpp1",
                    "type": "synonym"
                },
                {
                    "name": "Rg9mtd1",
                    "type": "synonym"
                },
                {
                    "name": "Trmt10c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U2R4-1",
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                {
                    "id": "0111471",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111471"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7JUX9-1",
            "uniprot_ac": "Q7JUX9",
            "uniprot_id": "MRRP1_DROME",
            "refseq_ac": "NP_611335",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial ribonuclease P protein 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG5190-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial RNase P protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein roswell",
                    "type": "synonym"
                },
                {
                    "name": "RNA (guanine-9-)-methyltransferase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "roswell",
                    "type": "synonym"
                },
                {
                    "name": "rswl-PA",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 10 homolog C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rswl",
                    "type": "recommended"
                },
                {
                    "name": "CG5190",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5190",
                    "type": "synonym"
                },
                {
                    "name": "MRPP1",
                    "type": "synonym"
                },
                {
                    "name": "TRMT10C",
                    "type": "synonym"
                },
                {
                    "name": "rswl",
                    "type": "synonym"
                },
                {
                    "name": "trmt10c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7JUX9-1",
            "evidence": [
                {
                    "id": "0111471",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111471"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111471"
}