{
    "disease_id": "DOID:0111477",
    "recommended_name": {
        "id": "DOID:0111477",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111477",
        "name": "combined oxidative phosphorylation deficiency 14",
        "description": "A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111477",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111477",
            "name": "COXPD14",
            "description": ""
        },
        {
            "id": "MONDO:0013986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013986",
            "name": "combined oxidative phosphorylation defect type 14",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene."
        },
        {
            "id": "MONDO:0013986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013986",
            "name": "COXPD14",
            "description": ""
        },
        {
            "id": "MONDO:0013986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013986",
            "name": "FARS2 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013986",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in FARS2",
            "description": ""
        },
        {
            "id": "MONDO:0013986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013986",
            "name": "combined oxidative phosphorylation deficiency type 14",
            "description": ""
        },
        {
            "id": "MONDO:0013986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013986",
            "name": "combined oxidative phosphorylation deficiency 14",
            "description": ""
        },
        {
            "id": "MIM:614946",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614946",
            "name": "Combined oxidative phosphorylation deficiency 14",
            "description": "Combined oxidative phosphorylation deficiency 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111477"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111477",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111477",
            "categories": []
        },
        {
            "id": "MONDO:0013986",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013986",
            "categories": []
        },
        {
            "id": "MIM:614946",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614946",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99M01-1",
            "uniprot_ac": "Q99M01",
            "uniprot_id": "SYFM_MOUSE",
            "refseq_ac": "NP_077236",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phenylalanine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.20",
                    "type": "synonym"
                },
                {
                    "name": "PheRS",
                    "type": "synonym"
                },
                {
                    "name": "Phenylalanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "phenylalanine--tRNA ligase, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phenylalanine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "phenylalanine-tRNA synthetase 1 (mitochondrial)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fars2",
                    "type": "recommended"
                },
                {
                    "name": "Fars1",
                    "type": "synonym"
                },
                {
                    "name": "Fars2",
                    "type": "synonym"
                },
                {
                    "name": "pheRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99M01-1",
            "evidence": [
                {
                    "id": "0111477",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111477"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95363-1",
            "uniprot_ac": "O95363",
            "uniprot_id": "SYFM_HUMAN",
            "refseq_ac": "NP_001305801",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phenylalanine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.20",
                    "type": "synonym"
                },
                {
                    "name": "PheRS",
                    "type": "synonym"
                },
                {
                    "name": "Phenylalanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "dJ236A3.1 (phenylalanine-tRNA synthetase)",
                    "type": "synonym"
                },
                {
                    "name": "dJ520B18.2 (FARS1 (phenylalanine-tRNA synthetase))",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial PHERS",
                    "type": "synonym"
                },
                {
                    "name": "phenylalanine tRNA ligase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "phenylalanine translase",
                    "type": "synonym"
                },
                {
                    "name": "phenylalanine--tRNA ligase, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phenylalanine-tRNA synthetase 1 (mitochondrial)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FARS2",
                    "type": "recommended"
                },
                {
                    "name": "COXPD14",
                    "type": "synonym"
                },
                {
                    "name": "FARS1",
                    "type": "synonym"
                },
                {
                    "name": "FARS2",
                    "type": "synonym"
                },
                {
                    "name": "HSPC320",
                    "type": "synonym"
                },
                {
                    "name": "PheRS",
                    "type": "synonym"
                },
                {
                    "name": "SPG77",
                    "type": "synonym"
                },
                {
                    "name": "mtPheRS",
                    "type": "synonym"
                }
            ],
            "record_id": "O95363-1",
            "evidence": [
                {
                    "id": "614946",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614946"
                },
                {
                    "id": "0111477",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111477"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08425-1",
            "uniprot_ac": "P08425",
            "uniprot_id": "SYFM_YEAST",
            "refseq_ac": "NP_015372",
            "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": "Phenylalanine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.20",
                    "type": "synonym"
                },
                {
                    "name": "PheRS",
                    "type": "synonym"
                },
                {
                    "name": "Phenylalanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "phenylalanine--tRNA ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSF1",
                    "type": "recommended"
                },
                {
                    "name": "MSF1",
                    "type": "synonym"
                },
                {
                    "name": "YP9499.05",
                    "type": "synonym"
                }
            ],
            "record_id": "P08425-1",
            "evidence": [
                {
                    "id": "0111477",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111477"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AYQ3-1",
            "uniprot_ac": "Q6AYQ3",
            "uniprot_id": "SYFM_RAT",
            "refseq_ac": "NP_001013157",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phenylalanine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.20",
                    "type": "synonym"
                },
                {
                    "name": "PheRS",
                    "type": "synonym"
                },
                {
                    "name": "Phenylalanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "pheRS",
                    "type": "synonym"
                },
                {
                    "name": "phenylalanine--tRNA ligase, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phenylalanine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "phenylalanine-tRNA synthetase 1 (mitochondrial)",
                    "type": "synonym"
                },
                {
                    "name": "phenylalanine-tRNA synthetase 2 (mitochondrial)",
                    "type": "synonym"
                },
                {
                    "name": "phenylalanyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fars2",
                    "type": "recommended"
                },
                {
                    "name": "Fars1",
                    "type": "synonym"
                },
                {
                    "name": "Fars2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AYQ3-1",
            "evidence": [
                {
                    "id": "0111477",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111477"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O16129-1",
            "uniprot_ac": "O16129",
            "uniprot_id": "SYFM_DROME",
            "refseq_ac": "NP_477283",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable phenylalanine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.20",
                    "type": "synonym"
                },
                {
                    "name": "CG13348-PA",
                    "type": "synonym"
                },
                {
                    "name": "PheRS-m-PA",
                    "type": "synonym"
                },
                {
                    "name": "PheRS",
                    "type": "synonym"
                },
                {
                    "name": "Phenylalanyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Phenylalanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial phenylalanyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PheRS-m",
                    "type": "recommended"
                },
                {
                    "name": "Aats-phe-m",
                    "type": "synonym"
                },
                {
                    "name": "Aats-phe",
                    "type": "synonym"
                },
                {
                    "name": "CG13348",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13348",
                    "type": "synonym"
                },
                {
                    "name": "FRS",
                    "type": "synonym"
                },
                {
                    "name": "PheRS-m",
                    "type": "synonym"
                },
                {
                    "name": "PheRS",
                    "type": "synonym"
                },
                {
                    "name": "Pts",
                    "type": "synonym"
                },
                {
                    "name": "dFARS2",
                    "type": "synonym"
                },
                {
                    "name": "dFARS",
                    "type": "synonym"
                },
                {
                    "name": "mtPheRS",
                    "type": "synonym"
                }
            ],
            "record_id": "O16129-1",
            "evidence": [
                {
                    "id": "0111477",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111477"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111477"
}