{
    "disease_id": "DOID:0111186",
    "recommended_name": {
        "id": "DOID:0111186",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111186",
        "name": "myopathy, lactic acidosis, and sideroblastic anemia 2",
        "description": "A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111186",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111186",
            "name": "MLASA2",
            "description": ""
        },
        {
            "id": "MONDO:0013307",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013307",
            "name": "myopathy, lactic acidosis, and sideroblastic anemia 2",
            "description": "Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene."
        },
        {
            "id": "MONDO:0013307",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013307",
            "name": "YARS2 mitochondrial myopathy and sideroblastic anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0013307",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013307",
            "name": "YARS2 mitochondrial myopathy and sideroblastic anemia",
            "description": ""
        },
        {
            "id": "MONDO:0013307",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013307",
            "name": "mitochondrial myopathy and sideroblastic anaemia caused by mutation in YARS2",
            "description": ""
        },
        {
            "id": "MONDO:0013307",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013307",
            "name": "mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2",
            "description": ""
        },
        {
            "id": "MONDO:0013307",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013307",
            "name": "myopathy, lactic acidosis, and sideroblastic Anaemia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013307",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013307",
            "name": "myopathy, lactic acidosis, and sideroblastic Anemia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013307",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013307",
            "name": "myopathy, lactic acidosis, and sideroblastic anemia 2",
            "description": ""
        },
        {
            "id": "MONDO:0013307",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013307",
            "name": "MLASA2",
            "description": ""
        },
        {
            "id": "MIM:613561",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613561",
            "name": "Myopathy with lactic acidosis and sideroblastic anemia 2",
            "description": "Myopathy with lactic acidosis and sideroblastic anemia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111186"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111186",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111186",
            "categories": []
        },
        {
            "id": "MONDO:0013307",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013307",
            "categories": []
        },
        {
            "id": "MIM:613561",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613561",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q4R5-1",
            "uniprot_ac": "F1Q4R5",
            "uniprot_id": "F1Q4R5_DANRE",
            "refseq_ac": "NP_001137392",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "yars2",
                    "type": "recommended"
                },
                {
                    "name": "fi41d10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi41d10",
                    "type": "synonym"
                },
                {
                    "name": "yars2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q4R5-1",
            "evidence": [
                {
                    "id": "0111186",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111186"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BYL4-1",
            "uniprot_ac": "Q8BYL4",
            "uniprot_id": "SYYM_MOUSE",
            "refseq_ac": "NP_937889",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "TyrRS",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Yars2",
                    "type": "recommended"
                },
                {
                    "name": "2210023C10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Yars2",
                    "type": "synonym"
                },
                {
                    "name": "tyrRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BYL4-1",
            "evidence": [
                {
                    "id": "0111186",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111186"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2Z4-1",
            "uniprot_ac": "Q9Y2Z4",
            "uniprot_id": "SYYM_HUMAN",
            "refseq_ac": "NP_001035526",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "TyrRS",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine tRNA ligase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine--tRNA ligase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl-tRNA synthetase 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YARS2",
                    "type": "recommended"
                },
                {
                    "name": "CGI-04",
                    "type": "synonym"
                },
                {
                    "name": "MLASA2",
                    "type": "synonym"
                },
                {
                    "name": "MT-TYRRS",
                    "type": "synonym"
                },
                {
                    "name": "TYRRS",
                    "type": "synonym"
                },
                {
                    "name": "YARS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2Z4-1",
            "evidence": [
                {
                    "id": "613561",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613561"
                },
                {
                    "id": "0111186",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111186"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48527-1",
            "uniprot_ac": "P48527",
            "uniprot_id": "SYYM_YEAST",
            "refseq_ac": "NP_015228",
            "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": "Tyrosine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "TyrRS",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine--tRNA ligase MSY1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSY1",
                    "type": "recommended"
                },
                {
                    "name": "LPG11W",
                    "type": "synonym"
                },
                {
                    "name": "MSY1",
                    "type": "synonym"
                }
            ],
            "record_id": "P48527-1",
            "evidence": [
                {
                    "id": "0111186",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111186"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5I0L3-1",
            "uniprot_ac": "Q5I0L3",
            "uniprot_id": "SYYM_RAT",
            "refseq_ac": "NP_001009627",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "TyrRS",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "tyrRS",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl-tRNA synthetase 2 (mitochondrial)",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Yars2",
                    "type": "recommended"
                },
                {
                    "name": "CGI-04",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311696",
                    "type": "synonym"
                },
                {
                    "name": "Yars2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5I0L3-1",
            "evidence": [
                {
                    "id": "0111186",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111186"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W107-1",
            "uniprot_ac": "Q9W107",
            "uniprot_id": "SYYM_DROME",
            "refseq_ac": "NP_611967",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CG16912-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial tyrosyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "TyrRS-m-PA",
                    "type": "synonym"
                },
                {
                    "name": "TyrRS",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-1E12",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial tyrosyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TyrRS-m",
                    "type": "recommended"
                },
                {
                    "name": "Aatm",
                    "type": "synonym"
                },
                {
                    "name": "Aats-try-m",
                    "type": "synonym"
                },
                {
                    "name": "Aats-tyr-m",
                    "type": "synonym"
                },
                {
                    "name": "CG16912",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG16912",
                    "type": "synonym"
                },
                {
                    "name": "TyrRS-m",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe1E12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W107-1",
            "evidence": [
                {
                    "id": "0111186",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111186"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111186"
}