{
    "disease_id": "DOID:0080716",
    "recommended_name": {
        "id": "DOID:0080716",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080716",
        "name": "infantile liver failure syndrome",
        "description": "A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate."
    },
    "synonyms": [
        {
            "id": "MONDO:0024568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024568",
            "name": "infantile liver failure syndrome 1",
            "description": "Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene."
        },
        {
            "id": "MONDO:0024568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024568",
            "name": "LARS infantile liver failure",
            "description": ""
        },
        {
            "id": "MONDO:0024568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024568",
            "name": "Lars infantile liver failure",
            "description": ""
        },
        {
            "id": "MONDO:0024568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024568",
            "name": "infantile liver failure caused by mutation in LARS",
            "description": ""
        },
        {
            "id": "MONDO:0024568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024568",
            "name": "infantile liver failure caused by mutation in Lars",
            "description": ""
        },
        {
            "id": "MONDO:0024568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024568",
            "name": "infantile liver failure syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0024568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024568",
            "name": "infantile liver failure syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0024568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024568",
            "name": "ILFS1",
            "description": ""
        },
        {
            "id": "MIM:615438",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615438",
            "name": "Infantile liver failure syndrome 1",
            "description": "Infantile liver failure syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0080717",
            "label": "infantile liver failure syndrome 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080717",
        "DOID:0080716"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080716",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080716",
            "categories": []
        },
        {
            "id": "MONDO:0024568",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024568",
            "categories": []
        },
        {
            "id": "MIM:615438",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615438",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "Q5TYW4",
            "uniprot_id": "NBAS_DANRE",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "NBAS subunit of NRZ tethering complex",
                    "type": "recommended"
                },
                {
                    "name": "NBAS subunit of NRZ tethering complex",
                    "type": "synonym"
                },
                {
                    "name": "Neuroblastoma-amplified gene protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Neuroblastoma-amplified sequence",
                    "type": "synonym"
                },
                {
                    "name": "neuroblastoma amplified sequence",
                    "type": "synonym"
                },
                {
                    "name": "neuroblastoma-amplified gene protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "nbas",
                    "type": "recommended"
                },
                {
                    "name": "NAG",
                    "type": "synonym"
                },
                {
                    "name": "nag",
                    "type": "synonym"
                },
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                    "type": "synonym"
                },
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                }
            ],
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                    "id": "0080716",
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                }
            ]
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                }
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                {
                    "name": "Mitochondrial tRNA-specific 2-thiouridylase 1",
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                    "type": "synonym"
                },
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                    "name": "mitochondrial tRNA-specific 2-thiouridylase 1",
                    "type": "synonym"
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                    "name": "trmu",
                    "type": "recommended"
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                    "type": "synonym"
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                    "name": "zgc:110555",
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                    "name": "Mus musculus",
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                }
            ],
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                {
                    "name": "RAD50-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "RAD50 interactor 1",
                    "type": "synonym"
                },
                {
                    "name": "RAD50-interacting protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "RAD50-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RINT-1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Rint1",
                    "type": "recommended"
                },
                {
                    "name": "1500019C06Rik",
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                },
                {
                    "name": "2810450M21Rik",
                    "type": "synonym"
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                    "name": "Rint-1",
                    "type": "synonym"
                },
                {
                    "name": "Rint1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BZ36-1",
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                {
                    "id": "0080716",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q411-1",
            "uniprot_ac": "E9Q411",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NBAS subunit of NRZ tethering complex isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Neuroblastoma amplified sequence",
                    "type": "synonym"
                },
                {
                    "name": "neuroblastoma-amplified protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nbas",
                    "type": "recommended"
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                {
                    "name": "4933425L03Rik",
                    "type": "synonym"
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                {
                    "name": "Nag",
                    "type": "synonym"
                },
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                    "name": "Nbas",
                    "type": "synonym"
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                    "id": "0080716",
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                }
            ]
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        {
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                    "name": "Mus musculus",
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                    "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"
                }
            ],
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                    "name": "Trmu",
                    "type": "recommended"
                },
                {
                    "name": "1110005N20Rik",
                    "type": "synonym"
                },
                {
                    "name": "1600025P05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mtu1",
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                },
                {
                    "name": "Trmt1",
                    "type": "synonym"
                },
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                    "name": "Trmu",
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                }
            ],
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                    "id": "0080716",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080716"
                }
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        {
            "uniprot_canonical_ac": "Q9P2J5-1",
            "uniprot_ac": "Q9P2J5",
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            "refseq_ac": "NP_001304893",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.4",
                    "type": "synonym"
                },
                {
                    "name": "LeuRS",
                    "type": "synonym"
                },
                {
                    "name": "Leucyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "cLRS",
                    "type": "synonym"
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                {
                    "name": "cytoplasmic leucyl-tRNA synthetase",
                    "type": "synonym"
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                    "name": "cytosolic leucyl-tRNA synthetase",
                    "type": "synonym"
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                    "name": "leucine--tRNA ligase, cytoplasmic isoform 3",
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                {
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                    "name": "LEUS",
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                    "name": "RAD50-interacting protein 1",
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                    "id": "0080716",
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                    "name": "mitochondrial tRNA-specific 2-thiouridylase 1",
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                {
                    "name": "tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase 1",
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                {
                    "id": "0080716",
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                }
            ]
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "RINT1-like protein",
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                {
                    "name": "CG8605-PA",
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                {
                    "name": "DmRINT-1",
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                },
                {
                    "name": "RAD50 interactor 1",
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                {
                    "name": "RINT1 ortholog",
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        }
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    "biomarkers": [],
    "association_flag": "1000",
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}