{
    "disease_id": "DOID:0111489",
    "recommended_name": {
        "id": "DOID:0111489",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111489",
        "name": "combined oxidative phosphorylation deficiency 27",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34."
    },
    "synonyms": [
        {
            "id": "DOID:0111489",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111489",
            "name": "COXPD27",
            "description": ""
        },
        {
            "id": "MONDO:0014728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014728",
            "name": "combined oxidative phosphorylation defect type 27",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene."
        },
        {
            "id": "MONDO:0014728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014728",
            "name": "CARS2 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014728",
            "name": "COXPD27",
            "description": ""
        },
        {
            "id": "MONDO:0014728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014728",
            "name": "combined oxidative phosphorylation deficiency 27",
            "description": ""
        },
        {
            "id": "MONDO:0014728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014728",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in CARS2",
            "description": ""
        },
        {
            "id": "MONDO:0014728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014728",
            "name": "combined oxidative phosphorylation deficiency type 27",
            "description": ""
        },
        {
            "id": "MIM:616672",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616672",
            "name": "Combined oxidative phosphorylation deficiency 27",
            "description": "Combined oxidative phosphorylation deficiency 27"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111489"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111489",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111489",
            "categories": []
        },
        {
            "id": "MONDO:0014728",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014728",
            "categories": []
        },
        {
            "id": "MIM:616672",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616672",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AA70QHQ6-1",
            "uniprot_ac": "A0AA70QHQ6",
            "uniprot_id": "A0AA70QHQ6_DANRE",
            "refseq_ac": "XP_682732",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable cysteine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.16",
                    "type": "synonym"
                },
                {
                    "name": "Cysteinyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "probable cysteine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cars2",
                    "type": "recommended"
                },
                {
                    "name": "cars2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AA70QHQ6-1",
            "evidence": [
                {
                    "id": "0111489",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111489"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BYM8-1",
            "uniprot_ac": "Q8BYM8",
            "uniprot_id": "SYCM_MOUSE",
            "refseq_ac": "NP_077210",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable cysteine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.16",
                    "type": "synonym"
                },
                {
                    "name": "CysRS",
                    "type": "synonym"
                },
                {
                    "name": "Cysteinyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "cysteinyl-tRNA synthetase 2 (mitochondrial)(putative)",
                    "type": "synonym"
                },
                {
                    "name": "probable cysteine--tRNA ligase, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "probable cysteine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable cysteinyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cars2",
                    "type": "recommended"
                },
                {
                    "name": "2310051N18Rik",
                    "type": "synonym"
                },
                {
                    "name": "2410044A07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cars2",
                    "type": "synonym"
                },
                {
                    "name": "D530030H10Rik",
                    "type": "synonym"
                },
                {
                    "name": "cysRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BYM8-1",
            "evidence": [
                {
                    "id": "0111489",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111489"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HA77-1",
            "uniprot_ac": "Q9HA77",
            "uniprot_id": "SYCM_HUMAN",
            "refseq_ac": "NP_078813",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable cysteine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.16",
                    "type": "synonym"
                },
                {
                    "name": "CysRS",
                    "type": "synonym"
                },
                {
                    "name": "Cysteinyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "cysteine tRNA ligase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "cysteinyl-tRNA synthetase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "probable cysteine--tRNA ligase, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable cysteine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CARS2",
                    "type": "recommended"
                },
                {
                    "name": "CARS2",
                    "type": "synonym"
                },
                {
                    "name": "COXPD27",
                    "type": "synonym"
                },
                {
                    "name": "SW-cl.10",
                    "type": "synonym"
                },
                {
                    "name": "cysRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HA77-1",
            "evidence": [
                {
                    "id": "616672",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616672"
                },
                {
                    "id": "0111489",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111489"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZXZ9-1",
            "uniprot_ac": "A0A8I5ZXZ9",
            "uniprot_id": "A0A8I5ZXZ9_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable cysteine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.16",
                    "type": "synonym"
                },
                {
                    "name": "Cysteinyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cars2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZXZ9-1",
            "evidence": [
                {
                    "id": "0111489",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111489"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111489"
}