{
    "disease_id": "DOID:0080778",
    "recommended_name": {
        "id": "DOID:0080778",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080778",
        "name": "transient infantile liver failure",
        "description": "A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins",
            "description": "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia."
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "acute infantile liver failure",
            "description": ""
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "LFIT",
            "description": ""
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "TRMU infantile liver failure",
            "description": ""
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins",
            "description": ""
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins",
            "description": ""
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "infantile liver failure caused by mutation in TRMU",
            "description": ""
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "liver failure, infantile, transient",
            "description": ""
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "liver failure, transient infantile",
            "description": ""
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "transient infantile liver failure",
            "description": ""
        },
        {
            "id": "MIM:613070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613070",
            "name": "Liver failure, infantile, transient",
            "description": "Liver failure, infantile, transient"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080778"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080778",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080778",
            "categories": []
        },
        {
            "id": "MONDO:0013111",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "categories": []
        },
        {
            "id": "MIM:613070",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613070",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q503J2-1",
            "uniprot_ac": "Q503J2",
            "uniprot_id": "MTU1_DANRE",
            "refseq_ac": "NP_001018435",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial tRNA-specific 2-thiouridylase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.14",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial tRNA-specific 2-thiouridylase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trmu",
                    "type": "recommended"
                },
                {
                    "name": "mtu1",
                    "type": "synonym"
                },
                {
                    "name": "mut1",
                    "type": "synonym"
                },
                {
                    "name": "trmu",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110555",
                    "type": "synonym"
                }
            ],
            "record_id": "Q503J2-1",
            "evidence": [
                {
                    "id": "0080778",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080778"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DAT5-1",
            "uniprot_ac": "Q9DAT5",
            "uniprot_id": "MTU1_MOUSE",
            "refseq_ac": "NP_082339",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial tRNA-specific 2-thiouridylase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.14",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial tRNA-specific 2-thiouridylase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trmu",
                    "type": "recommended"
                },
                {
                    "name": "1110005N20Rik",
                    "type": "synonym"
                },
                {
                    "name": "1600025P05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mtu1",
                    "type": "synonym"
                },
                {
                    "name": "Trmt1",
                    "type": "synonym"
                },
                {
                    "name": "Trmu",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DAT5-1",
            "evidence": [
                {
                    "id": "0080778",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080778"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75648-1",
            "uniprot_ac": "O75648",
            "uniprot_id": "MTU1_HUMAN",
            "refseq_ac": "NP_001269712",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial tRNA-specific 2-thiouridylase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.14",
                    "type": "synonym"
                },
                {
                    "name": "MTO2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "lung cancer associated lncRNA 3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial tRNA-specific 2-thiouridylase 1 isoform e",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial tRNA-specific 2-thiouridylase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRMU",
                    "type": "recommended"
                },
                {
                    "name": "LCAL3",
                    "type": "synonym"
                },
                {
                    "name": "MTO2",
                    "type": "synonym"
                },
                {
                    "name": "MTU1",
                    "type": "synonym"
                },
                {
                    "name": "TRMT1",
                    "type": "synonym"
                },
                {
                    "name": "TRMT",
                    "type": "synonym"
                },
                {
                    "name": "TRMU",
                    "type": "synonym"
                }
            ],
            "record_id": "O75648-1",
            "evidence": [
                {
                    "id": "613070",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613070"
                },
                {
                    "id": "0080778",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080778"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12093-1",
            "uniprot_ac": "Q12093",
            "uniprot_id": "MTU1_YEAST",
            "refseq_ac": "NP_010251",
            "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": "Mitochondrial tRNA-specific 2-thiouridylase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.13",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial translation optimization protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Synthetic lethal with MSS4 3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-5-taurinomethyluridine 2-sulfurtransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLM3",
                    "type": "recommended"
                },
                {
                    "name": "D2761",
                    "type": "synonym"
                },
                {
                    "name": "MTO2",
                    "type": "synonym"
                },
                {
                    "name": "MTU1",
                    "type": "synonym"
                },
                {
                    "name": "SLM3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12093-1",
            "evidence": [
                {
                    "id": "0080778",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080778"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1WC37-1",
            "uniprot_ac": "B1WC37",
            "uniprot_id": "MTU1_RAT",
            "refseq_ac": "NP_001388104",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial tRNA-specific 2-thiouridylase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.14",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial tRNA-specific 2-thiouridylase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial tRNA-specific 2-thiouridylase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trmu",
                    "type": "recommended"
                },
                {
                    "name": "Mtu1",
                    "type": "synonym"
                },
                {
                    "name": "Trmu",
                    "type": "synonym"
                }
            ],
            "record_id": "B1WC37-1",
            "evidence": [
                {
                    "id": "0080778",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080778"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W5B6-1",
            "uniprot_ac": "Q9W5B6",
            "uniprot_id": "MTU1_DROME",
            "refseq_ac": "NP_652639",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial tRNA-specific 2-thiouridylase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.13",
                    "type": "synonym"
                },
                {
                    "name": "CG3021-PA",
                    "type": "synonym"
                },
                {
                    "name": "transcription unit E",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG3021",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3021",
                    "type": "synonym"
                },
                {
                    "name": "EG:BACR7A4.8",
                    "type": "synonym"
                },
                {
                    "name": "E",
                    "type": "synonym"
                },
                {
                    "name": "anon-1Ed",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W5B6-1",
            "evidence": [
                {
                    "id": "0080778",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080778"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080778"
}