{
    "disease_id": "DOID:0111465",
    "recommended_name": {
        "id": "DOID:0111465",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111465",
        "name": "combined oxidative phosphorylation deficiency 21",
        "description": "A combined oxidative phosphorylation deficiency characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a milder course and longer survival that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111465",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111465",
            "name": "COXPD21",
            "description": ""
        },
        {
            "id": "MONDO:0014398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014398",
            "name": "combined oxidative phosphorylation defect type 21",
            "description": "Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver."
        },
        {
            "id": "MONDO:0014398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014398",
            "name": "COXPD21",
            "description": ""
        },
        {
            "id": "MONDO:0014398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014398",
            "name": "TARS2 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014398",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in TARS2",
            "description": ""
        },
        {
            "id": "MONDO:0014398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014398",
            "name": "combined oxidative phosphorylation deficiency type 21",
            "description": ""
        },
        {
            "id": "MONDO:0014398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014398",
            "name": "combined oxidative phosphorylation deficiency 21",
            "description": ""
        },
        {
            "id": "MIM:615918",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615918",
            "name": "Combined oxidative phosphorylation deficiency 21",
            "description": "Combined oxidative phosphorylation deficiency 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111465"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111465",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111465",
            "categories": []
        },
        {
            "id": "MONDO:0014398",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014398",
            "categories": []
        },
        {
            "id": "MIM:615918",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615918",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PJQ9-1",
            "uniprot_ac": "A0A8M9PJQ9",
            "uniprot_id": "A0A8M9PJQ9_DANRE",
            "refseq_ac": "XP_021322466",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "threonine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "threonine--tRNA ligase 1, cytoplasmic isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tars2",
                    "type": "recommended"
                },
                {
                    "name": "tars2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PJQ9-1",
            "evidence": [
                {
                    "id": "0111465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UQ84-1",
            "uniprot_ac": "Q3UQ84",
            "uniprot_id": "SYTM_MOUSE",
            "refseq_ac": "NP_001157089",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Threonine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "ThrRS",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "threonine--tRNA ligase, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "threonine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "threonyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "threonyl-tRNA synthetase-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tars2",
                    "type": "recommended"
                },
                {
                    "name": "2610024N01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tars2",
                    "type": "synonym"
                },
                {
                    "name": "Tarsl1",
                    "type": "synonym"
                },
                {
                    "name": "thrRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UQ84-1",
            "evidence": [
                {
                    "id": "0111465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BW92-1",
            "uniprot_ac": "Q9BW92",
            "uniprot_id": "SYTM_HUMAN",
            "refseq_ac": "NP_001258825",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Threonine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "ThrRS",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "threonine--tRNA ligase, mitochondrial isoform c",
                    "type": "synonym"
                },
                {
                    "name": "threonine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "threonyl-tRNA synthetase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "threonyl-tRNA synthetase-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TARS2",
                    "type": "recommended"
                },
                {
                    "name": "COXPD21",
                    "type": "synonym"
                },
                {
                    "name": "TARS2",
                    "type": "synonym"
                },
                {
                    "name": "TARSL1",
                    "type": "synonym"
                },
                {
                    "name": "thrRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BW92-1",
            "evidence": [
                {
                    "id": "615918",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615918"
                },
                {
                    "id": "0111465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04801-1",
            "uniprot_ac": "P04801",
            "uniprot_id": "SYTC_YEAST",
            "refseq_ac": "NP_116578",
            "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": "Threonine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "ThrRS",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "threonine--tRNA ligase THS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "THS1",
                    "type": "recommended"
                },
                {
                    "name": "THS1",
                    "type": "synonym"
                }
            ],
            "record_id": "P04801-1",
            "evidence": [
                {
                    "id": "0111465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68FW7-1",
            "uniprot_ac": "Q68FW7",
            "uniprot_id": "SYTM_RAT",
            "refseq_ac": "NP_001014062",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Threonine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "ThrRS",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "thrRS",
                    "type": "synonym"
                },
                {
                    "name": "threonine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "threonyl-tRNA synthetase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "threonyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "threonyl-tRNA synthetase-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tars2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1308283",
                    "type": "synonym"
                },
                {
                    "name": "Tars2",
                    "type": "synonym"
                },
                {
                    "name": "Tarsl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68FW7-1",
            "evidence": [
                {
                    "id": "0111465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKB0-1",
            "uniprot_ac": "Q9VKB0",
            "uniprot_id": "Q9VKB0_DROME",
            "refseq_ac": "NP_001285868",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "threonine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "CG5353-PD",
                    "type": "synonym"
                },
                {
                    "name": "ThrRS-PD",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "threonyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ThrRS",
                    "type": "recommended"
                },
                {
                    "name": "2L16",
                    "type": "synonym"
                },
                {
                    "name": "3",
                    "type": "synonym"
                },
                {
                    "name": "42/3",
                    "type": "synonym"
                },
                {
                    "name": "Aats-thr",
                    "type": "synonym"
                },
                {
                    "name": "CG5353",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5353",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5353",
                    "type": "synonym"
                },
                {
                    "name": "P539",
                    "type": "synonym"
                },
                {
                    "name": "TARS",
                    "type": "synonym"
                },
                {
                    "name": "TRS",
                    "type": "synonym"
                },
                {
                    "name": "ThrRS",
                    "type": "synonym"
                },
                {
                    "name": "dTARS",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k04203",
                    "type": "synonym"
                },
                {
                    "name": "threonyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKB0-1",
            "evidence": [
                {
                    "id": "0111465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111465"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111465"
}