{
    "disease_id": "DOID:0111479",
    "recommended_name": {
        "id": "DOID:0111479",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111479",
        "name": "combined oxidative phosphorylation deficiency 8",
        "description": "A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111479",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111479",
            "name": "COXPD8",
            "description": ""
        },
        {
            "id": "MONDO:0013570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013570",
            "name": "combined oxidative phosphorylation defect type 8",
            "description": "Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement."
        },
        {
            "id": "MONDO:0013570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013570",
            "name": "AARS2 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013570",
            "name": "COXPD8",
            "description": ""
        },
        {
            "id": "MONDO:0013570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013570",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in AARS2",
            "description": ""
        },
        {
            "id": "MONDO:0013570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013570",
            "name": "combined oxidative phosphorylation deficiency type 8",
            "description": ""
        },
        {
            "id": "MONDO:0013570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013570",
            "name": "combined oxidative phosphorylation deficiency 8",
            "description": ""
        },
        {
            "id": "MIM:614096",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614096",
            "name": "Combined oxidative phosphorylation deficiency 8",
            "description": "Combined oxidative phosphorylation deficiency 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111479"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111479",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111479",
            "categories": []
        },
        {
            "id": "MONDO:0013570",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013570",
            "categories": []
        },
        {
            "id": "MIM:614096",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614096",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1Q6V5-1",
            "uniprot_ac": "A0A8M1Q6V5",
            "uniprot_id": "A0A8M1Q6V5_DANRE",
            "refseq_ac": "XP_001332388",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.7",
                    "type": "synonym"
                },
                {
                    "name": "alanine--tRNA ligase, mitochondrial isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC100536819",
                    "type": "recommended"
                },
                {
                    "name": "aars2",
                    "type": "recommended"
                },
                {
                    "name": "AARS",
                    "type": "synonym"
                },
                {
                    "name": "aars2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1Q6V5-1",
            "evidence": [
                {
                    "id": "0111479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111479"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14CH7-1",
            "uniprot_ac": "Q14CH7",
            "uniprot_id": "SYAM_MOUSE",
            "refseq_ac": "NP_941010",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.7",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS",
                    "type": "synonym"
                },
                {
                    "name": "Alanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Protein lactyltransferase AARS2",
                    "type": "synonym"
                },
                {
                    "name": "alanine--tRNA ligase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "alanine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "alanyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "protein lactyltransferase AARS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aars2",
                    "type": "recommended"
                },
                {
                    "name": "Aars2",
                    "type": "synonym"
                },
                {
                    "name": "Aarsl",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS",
                    "type": "synonym"
                },
                {
                    "name": "Gm89",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1270",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14CH7-1",
            "evidence": [
                {
                    "id": "0111479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111479"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5JTZ9-1",
            "uniprot_ac": "Q5JTZ9",
            "uniprot_id": "SYAM_HUMAN",
            "refseq_ac": "NP_065796",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.7",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS",
                    "type": "synonym"
                },
                {
                    "name": "Alanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Protein lactyltransferase AARS2",
                    "type": "synonym"
                },
                {
                    "name": "alanine tRNA ligase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "alanine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "alanyl-tRNA synthetase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "alanyl-tRNA synthetase like",
                    "type": "synonym"
                },
                {
                    "name": "probable alanyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "protein lactyltransferase AARS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AARS2",
                    "type": "recommended"
                },
                {
                    "name": "AARS2",
                    "type": "synonym"
                },
                {
                    "name": "AARSL",
                    "type": "synonym"
                },
                {
                    "name": "COXPD8",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1270",
                    "type": "synonym"
                },
                {
                    "name": "LKENP",
                    "type": "synonym"
                },
                {
                    "name": "MT-ALARS",
                    "type": "synonym"
                },
                {
                    "name": "MTALARS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5JTZ9-1",
            "evidence": [
                {
                    "id": "614096",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614096"
                },
                {
                    "id": "0111479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111479"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40825-1",
            "uniprot_ac": "P40825",
            "uniprot_id": "SYA_YEAST",
            "refseq_ac": "NP_014980",
            "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": "Alanine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.7",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS",
                    "type": "synonym"
                },
                {
                    "name": "Alanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "alanine--tRNA ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALA1",
                    "type": "recommended"
                },
                {
                    "name": "ALA1",
                    "type": "synonym"
                },
                {
                    "name": "CDC64",
                    "type": "synonym"
                }
            ],
            "record_id": "P40825-1",
            "evidence": [
                {
                    "id": "0111479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111479"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZX08-1",
            "uniprot_ac": "D3ZX08",
            "uniprot_id": "SYAM_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.7",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS",
                    "type": "synonym"
                },
                {
                    "name": "Alanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Protein lactyltransferase AARS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aars2",
                    "type": "recommended"
                },
                {
                    "name": "AARS",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZX08-1",
            "evidence": [
                {
                    "id": "0111479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111479"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRJ1-1",
            "uniprot_ac": "Q9VRJ1",
            "uniprot_id": "SYAM_DROME",
            "refseq_ac": "NP_523932",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.7",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS-m-PA",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS",
                    "type": "synonym"
                },
                {
                    "name": "Alanyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Alanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "CG4633-PA",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial alanyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AlaRS-m",
                    "type": "recommended"
                },
                {
                    "name": "Aats-ala-m",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS-m",
                    "type": "synonym"
                },
                {
                    "name": "AlaS",
                    "type": "synonym"
                },
                {
                    "name": "CG4633",
                    "type": "synonym"
                },
                {
                    "name": "Dm mt AlaRS",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4633",
                    "type": "synonym"
                },
                {
                    "name": "alaS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRJ1-1",
            "evidence": [
                {
                    "id": "0111479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111479"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111479"
}