{
    "disease_id": "DOID:0080717",
    "recommended_name": {
        "id": "DOID:0080717",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080717",
        "name": "infantile liver failure syndrome 1",
        "description": "An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32."
    },
    "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_list": [
        "DOID:0080717"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080717",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080717",
            "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": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BMJ2-1",
            "uniprot_ac": "Q8BMJ2",
            "uniprot_id": "SYLC_MOUSE",
            "refseq_ac": "NP_598898",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "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": "leucine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "leucyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lars1",
                    "type": "recommended"
                },
                {
                    "name": "2310045K21Rik",
                    "type": "synonym"
                },
                {
                    "name": "3110009L02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lars1",
                    "type": "synonym"
                },
                {
                    "name": "Lars",
                    "type": "synonym"
                },
                {
                    "name": "leuRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BMJ2-1",
            "evidence": [
                {
                    "id": "0080717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P2J5-1",
            "uniprot_ac": "Q9P2J5",
            "uniprot_id": "SYLC_HUMAN",
            "refseq_ac": "NP_001304893",
            "glycoprotein": "yes",
            "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"
                },
                {
                    "name": "cytoplasmic leucyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic leucyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "leucine tRNA ligase 1, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "leucine translase",
                    "type": "synonym"
                },
                {
                    "name": "leucine--tRNA ligase, cytoplasmic isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "proliferation-inducing gene 44",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LARS1",
                    "type": "recommended"
                },
                {
                    "name": "HSPC192",
                    "type": "synonym"
                },
                {
                    "name": "ILFS1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1352",
                    "type": "synonym"
                },
                {
                    "name": "LARS1",
                    "type": "synonym"
                },
                {
                    "name": "LARS",
                    "type": "synonym"
                },
                {
                    "name": "LEURS",
                    "type": "synonym"
                },
                {
                    "name": "LEUS",
                    "type": "synonym"
                },
                {
                    "name": "LFIS",
                    "type": "synonym"
                },
                {
                    "name": "LRS",
                    "type": "synonym"
                },
                {
                    "name": "PIG44",
                    "type": "synonym"
                },
                {
                    "name": "RNTLS",
                    "type": "synonym"
                },
                {
                    "name": "cLRS",
                    "type": "synonym"
                },
                {
                    "name": "hr025Cl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P2J5-1",
            "evidence": [
                {
                    "id": "615438",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615438"
                },
                {
                    "id": "0080717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26637-1",
            "uniprot_ac": "P26637",
            "uniprot_id": "SYLC_YEAST",
            "refseq_ac": "NP_015165",
            "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": "Leucine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.4",
                    "type": "synonym"
                },
                {
                    "name": "LeuRS",
                    "type": "synonym"
                },
                {
                    "name": "Leucyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "leucine--tRNA ligase CDC60",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDC60",
                    "type": "recommended"
                },
                {
                    "name": "CDC60",
                    "type": "synonym"
                },
                {
                    "name": "P2564",
                    "type": "synonym"
                }
            ],
            "record_id": "P26637-1",
            "evidence": [
                {
                    "id": "0080717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQR8-1",
            "uniprot_ac": "Q9VQR8",
            "uniprot_id": "Q9VQR8_DROME",
            "refseq_ac": "NP_001285589",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "leucine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.4",
                    "type": "synonym"
                },
                {
                    "name": "CG33123-PB",
                    "type": "synonym"
                },
                {
                    "name": "LeuRS-PB",
                    "type": "synonym"
                },
                {
                    "name": "Leucyl-tRNA synthetase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Leucyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) SH0501",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LeuRS",
                    "type": "recommended"
                },
                {
                    "name": "CG3229",
                    "type": "synonym"
                },
                {
                    "name": "CG33123",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33123",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33123",
                    "type": "synonym"
                },
                {
                    "name": "LeuRS",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey266",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH0501",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2 0501",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQR8-1",
            "evidence": [
                {
                    "id": "0080717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080717"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080717"
}