{
    "disease_id": "DOID:0111501",
    "recommended_name": {
        "id": "DOID:0111501",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111501",
        "name": "combined oxidative phosphorylation deficiency 29",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111501",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111501",
            "name": "COXPD29",
            "description": ""
        },
        {
            "id": "MONDO:0014781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014781",
            "name": "combined oxidative phosphorylation deficiency 29",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene."
        },
        {
            "id": "MONDO:0014781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014781",
            "name": "COXPD29",
            "description": ""
        },
        {
            "id": "MONDO:0014781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014781",
            "name": "TXN2 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014781",
            "name": "combined oxidative phosphorylation deficiency 29",
            "description": ""
        },
        {
            "id": "MONDO:0014781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014781",
            "name": "combined oxidative phosphorylation deficiency 29; COXPD29",
            "description": ""
        },
        {
            "id": "MONDO:0014781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014781",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in TXN2",
            "description": ""
        },
        {
            "id": "MONDO:0014781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014781",
            "name": "combined oxidative phosphorylation deficiency type 29",
            "description": ""
        },
        {
            "id": "MIM:616811",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616811",
            "name": "Combined oxidative phosphorylation deficiency 29",
            "description": "Combined oxidative phosphorylation deficiency 29"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111501"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111501",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111501",
            "categories": []
        },
        {
            "id": "MONDO:0014781",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014781",
            "categories": []
        },
        {
            "id": "MIM:616811",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616811",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P97493-1",
            "uniprot_ac": "P97493",
            "uniprot_id": "THIOM_MOUSE",
            "refseq_ac": "NP_064297",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thioredoxin, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "MTRX",
                    "type": "synonym"
                },
                {
                    "name": "Mt-Trx",
                    "type": "synonym"
                },
                {
                    "name": "Thioredoxin-2",
                    "type": "synonym"
                },
                {
                    "name": "mt-Trx",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin nuclear gene encoding mitochondrial protein",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Txn2",
                    "type": "recommended"
                },
                {
                    "name": "2510006J11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Trx2",
                    "type": "synonym"
                },
                {
                    "name": "Txn2",
                    "type": "synonym"
                }
            ],
            "record_id": "P97493-1",
            "evidence": [
                {
                    "id": "0111501",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111501"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99757-1",
            "uniprot_ac": "Q99757",
            "uniprot_id": "THIOM_HUMAN",
            "refseq_ac": "NP_036605",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thioredoxin, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "MTRX",
                    "type": "synonym"
                },
                {
                    "name": "Mt-Trx",
                    "type": "synonym"
                },
                {
                    "name": "Thioredoxin-2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial thioredoxin",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TXN2",
                    "type": "recommended"
                },
                {
                    "name": "COXPD29",
                    "type": "synonym"
                },
                {
                    "name": "MT-TRX",
                    "type": "synonym"
                },
                {
                    "name": "MTRX",
                    "type": "synonym"
                },
                {
                    "name": "TRX2",
                    "type": "synonym"
                },
                {
                    "name": "TXN2",
                    "type": "synonym"
                },
                {
                    "name": "TXN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99757-1",
            "evidence": [
                {
                    "id": "616811",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616811"
                },
                {
                    "id": "0111501",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111501"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97615-1",
            "uniprot_ac": "P97615",
            "uniprot_id": "THIOM_RAT",
            "refseq_ac": "NP_445783",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thioredoxin, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "MTRX",
                    "type": "synonym"
                },
                {
                    "name": "Mt-Trx",
                    "type": "synonym"
                },
                {
                    "name": "Thioredoxin-2",
                    "type": "synonym"
                },
                {
                    "name": "mt-Trx",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Txn2",
                    "type": "recommended"
                },
                {
                    "name": "Trx2",
                    "type": "synonym"
                },
                {
                    "name": "Txn2",
                    "type": "synonym"
                }
            ],
            "record_id": "P97615-1",
            "evidence": [
                {
                    "id": "0111501",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111501"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W022-1",
            "uniprot_ac": "Q9W022",
            "uniprot_id": "Q9W022_DROME",
            "refseq_ac": "NP_647716",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thioredoxin domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG8993-PA",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG8993",
                    "type": "recommended"
                },
                {
                    "name": "8993",
                    "type": "synonym"
                },
                {
                    "name": "CG8993",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8993",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8993",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W022-1",
            "evidence": [
                {
                    "id": "0111501",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111501"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O76877-1",
            "uniprot_ac": "O76877",
            "uniprot_id": "O76877_DROME",
            "refseq_ac": "NP_651990",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thioredoxin domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG3719-PA",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG3719",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD03613",
                    "type": "synonym"
                },
                {
                    "name": "CG3719",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3719",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3719",
                    "type": "synonym"
                },
                {
                    "name": "EG:132E8.3",
                    "type": "synonym"
                }
            ],
            "record_id": "O76877-1",
            "evidence": [
                {
                    "id": "0111501",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111501"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111501"
}