{
    "disease_id": "DOID:0111485",
    "recommended_name": {
        "id": "DOID:0111485",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111485",
        "name": "combined oxidative phosphorylation deficiency 24",
        "description": "A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111485",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111485",
            "name": "COXPD24",
            "description": ""
        },
        {
            "id": "MONDO:0014547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014547",
            "name": "combined oxidative phosphorylation defect type 24",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene."
        },
        {
            "id": "MONDO:0014547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014547",
            "name": "COXPD24",
            "description": ""
        },
        {
            "id": "MONDO:0014547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014547",
            "name": "NARS2 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014547",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in NARS2",
            "description": ""
        },
        {
            "id": "MONDO:0014547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014547",
            "name": "combined oxidative phosphorylation deficiency type 24",
            "description": ""
        },
        {
            "id": "MONDO:0014547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014547",
            "name": "combined oxidative phosphorylation deficiency 24",
            "description": ""
        },
        {
            "id": "MIM:616239",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616239",
            "name": "Combined oxidative phosphorylation deficiency 24",
            "description": "Combined oxidative phosphorylation deficiency 24"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111485"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111485",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111485",
            "categories": []
        },
        {
            "id": "MONDO:0014547",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014547",
            "categories": []
        },
        {
            "id": "MIM:616239",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616239",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BGV0-1",
            "uniprot_ac": "Q8BGV0",
            "uniprot_id": "SYNM_MOUSE",
            "refseq_ac": "NP_705819",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Asparaginyl-tRNA synthetase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.22",
                    "type": "synonym"
                },
                {
                    "name": "AsnRS",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NARS2",
                    "type": "synonym"
                },
                {
                    "name": "asnRS",
                    "type": "synonym"
                },
                {
                    "name": "asparagine--tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "asparaginyl-tRNA synthetase precursor",
                    "type": "synonym"
                },
                {
                    "name": "probable asparagine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable asparaginyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nars2",
                    "type": "recommended"
                },
                {
                    "name": "Nars2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BGV0-1",
            "evidence": [
                {
                    "id": "0111485",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111485"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96I59-1",
            "uniprot_ac": "Q96I59",
            "uniprot_id": "SYNM_HUMAN",
            "refseq_ac": "NP_001230180",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Asparaginyl-tRNA synthetase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.22",
                    "type": "synonym"
                },
                {
                    "name": "AsnRS",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NARS2",
                    "type": "synonym"
                },
                {
                    "name": "asparagine tRNA ligase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "asparaginyl-tRNA synthetase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "asparaginyl-tRNA synthetase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal recessive 94",
                    "type": "synonym"
                },
                {
                    "name": "probable asparagine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable asparaginyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NARS2",
                    "type": "recommended"
                },
                {
                    "name": "DFNB94",
                    "type": "synonym"
                },
                {
                    "name": "NARS2",
                    "type": "synonym"
                },
                {
                    "name": "SLM5",
                    "type": "synonym"
                },
                {
                    "name": "asnRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96I59-1",
            "evidence": [
                {
                    "id": "616239",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616239"
                },
                {
                    "id": "0111485",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111485"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25345-1",
            "uniprot_ac": "P25345",
            "uniprot_id": "SYNM_YEAST",
            "refseq_ac": "NP_009953",
            "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": "Asparagine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.22",
                    "type": "synonym"
                },
                {
                    "name": "AsnRS",
                    "type": "synonym"
                },
                {
                    "name": "Asparaginyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "asparagine--tRNA ligase SLM5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLM5",
                    "type": "recommended"
                },
                {
                    "name": "SLM5",
                    "type": "synonym"
                },
                {
                    "name": "YCR242",
                    "type": "synonym"
                },
                {
                    "name": "YCR24C",
                    "type": "synonym"
                }
            ],
            "record_id": "P25345-1",
            "evidence": [
                {
                    "id": "0111485",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111485"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A5J1-1",
            "uniprot_ac": "A0A8I6A5J1",
            "uniprot_id": "A0A8I6A5J1_RAT",
            "refseq_ac": "NP_001385667",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Asparaginyl-tRNA synthetase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.22",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Nars2, similar to CG6796-PA",
                    "type": "synonym"
                },
                {
                    "name": "asparaginyl-tRNA synthetase 2 (mitochondrial)(putative)",
                    "type": "synonym"
                },
                {
                    "name": "asparaginyl-tRNA synthetase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable asparagine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable asparaginyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nars2",
                    "type": "recommended"
                },
                {
                    "name": "Nars2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1305145",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A5J1-1",
            "evidence": [
                {
                    "id": "0111485",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111485"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111485"
}