{
    "disease_id": "DOID:0081229",
    "recommended_name": {
        "id": "DOID:0081229",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081229",
        "name": "autosomal recessive intellectual developmental disorder 68",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0032665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032665",
            "name": "intellectual developmental disorder, autosomal recessive 68",
            "description": ""
        },
        {
            "id": "MONDO:0032665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032665",
            "name": "MRT68",
            "description": ""
        },
        {
            "id": "MIM:618302",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618302",
            "name": "Intellectual developmental disorder, autosomal recessive 68",
            "description": "Intellectual developmental disorder, autosomal recessive 68"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081229"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081229",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081229",
            "categories": []
        },
        {
            "id": "MONDO:0032665",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032665",
            "categories": []
        },
        {
            "id": "MIM:618302",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618302",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QGD9-1",
            "uniprot_ac": "F1QGD9",
            "uniprot_id": "F1QGD9_DANRE",
            "refseq_ac": "XP_685886",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (guanine(26)-N(2))-dimethyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.216",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(26)-N(2))-dimethyltransferase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trmt1",
                    "type": "recommended"
                },
                {
                    "name": "trmt1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QGD9-1",
            "evidence": [
                {
                    "id": "0081229",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081229"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TX08-1",
            "uniprot_ac": "Q3TX08",
            "uniprot_id": "TRM1_MOUSE",
            "refseq_ac": "NP_001158031",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (guanine(26)-N(2))-dimethyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.216",
                    "type": "synonym"
                },
                {
                    "name": "TRM1 tRNA methyltransferase 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "n(2),N(2)-dimethylguanosine tRNA methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(26)-N(2))-dimethyltransferase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(26)-N(2))-dimethyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA 2,2-dimethylguanosine-26 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA(guanine-26,N(2)-N(2)) methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA(m(2,2)G26)dimethyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trmt1",
                    "type": "recommended"
                },
                {
                    "name": "6720406L13Rik",
                    "type": "synonym"
                },
                {
                    "name": "6720477L24",
                    "type": "synonym"
                },
                {
                    "name": "D8Ertd812e",
                    "type": "synonym"
                },
                {
                    "name": "Trmt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TX08-1",
            "evidence": [
                {
                    "id": "0081229",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081229"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NXH9-1",
            "uniprot_ac": "Q9NXH9",
            "uniprot_id": "TRM1_HUMAN",
            "refseq_ac": "NP_001129507",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (guanine(26)-N(2))-dimethyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.216",
                    "type": "synonym"
                },
                {
                    "name": "N(2),N(2)-dimethylguanosine tRNA methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "TRM1 tRNA methyltransferase 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "hTRM1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(26)-N(2))-dimethyltransferase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(26)-N(2))-dimethyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA 2,2-dimethylguanosine-26 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA(guanine-26,N(2)-N(2)) methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA(m(2,2)G26)dimethyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRMT1",
                    "type": "recommended"
                },
                {
                    "name": "MRT68",
                    "type": "synonym"
                },
                {
                    "name": "TRM1",
                    "type": "synonym"
                },
                {
                    "name": "TRMT1",
                    "type": "synonym"
                },
                {
                    "name": "hTRM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NXH9-1",
            "evidence": [
                {
                    "id": "618302",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618302"
                },
                {
                    "id": "0081229",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081229"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15565-1",
            "uniprot_ac": "P15565",
            "uniprot_id": "TRM1_YEAST",
            "refseq_ac": "NP_010405",
            "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 (guanine(26)-N(2))-dimethyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.216",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine26-N2)-dimethyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA 2,2-dimethylguanosine-26 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA(guanine-26,N(2)-N(2)) methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA(m(2,2)G26)dimethyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRM1",
                    "type": "recommended"
                },
                {
                    "name": "TRM1",
                    "type": "synonym"
                },
                {
                    "name": "YD9727.15C",
                    "type": "synonym"
                }
            ],
            "record_id": "P15565-1",
            "evidence": [
                {
                    "id": "0081229",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081229"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A140UHW6-1",
            "uniprot_ac": "A0A140UHW6",
            "uniprot_id": "A0A140UHW6_RAT",
            "refseq_ac": "NP_001013892",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (guanine(26)-N(2))-dimethyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.216",
                    "type": "synonym"
                },
                {
                    "name": "N(2),N(2)-dimethylguanosine tRNA methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "TRM1 tRNA methyltransferase 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine(26)-N(2))-dimethyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trmt1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1305992",
                    "type": "synonym"
                },
                {
                    "name": "Trmt1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A140UHW6-1",
            "evidence": [
                {
                    "id": "0081229",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081229"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VK89-1",
            "uniprot_ac": "Q9VK89",
            "uniprot_id": "TRM1_DROME",
            "refseq_ac": "NP_609566",
            "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(26)-N(2))-dimethyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.216",
                    "type": "synonym"
                },
                {
                    "name": "CG6388-PA",
                    "type": "synonym"
                },
                {
                    "name": "Trm1-PA",
                    "type": "synonym"
                },
                {
                    "name": "tRNA 2,2-dimethylguanosine-26 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA(guanine-26,N(2)-N(2)) methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA(m(2,2)G26)dimethyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trm1",
                    "type": "recommended"
                },
                {
                    "name": "CG6388",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6388",
                    "type": "synonym"
                },
                {
                    "name": "TRM1",
                    "type": "synonym"
                },
                {
                    "name": "Trm1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VK89-1",
            "evidence": [
                {
                    "id": "0081229",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081229"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081229"
}