{
    "disease_id": "DOID:0112116",
    "recommended_name": {
        "id": "DOID:0112116",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112116",
        "name": "combined oxidative phosphorylation deficiency 43",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112116",
            "name": "COXPD43",
            "description": ""
        },
        {
            "id": "MONDO:0030017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030017",
            "name": "combined oxidative phosphorylation deficiency 43",
            "description": ""
        },
        {
            "id": "MONDO:0030017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030017",
            "name": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43",
            "description": ""
        },
        {
            "id": "MONDO:0030017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030017",
            "name": "COXPD43",
            "description": ""
        },
        {
            "id": "MONDO:0030017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030017",
            "name": "combined oxidative phosphorylation deficiency 43",
            "description": ""
        },
        {
            "id": "MIM:618851",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618851",
            "name": "Combined oxidative phosphorylation deficiency 43",
            "description": "Combined oxidative phosphorylation deficiency 43"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112116"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112116",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112116",
            "categories": []
        },
        {
            "id": "MONDO:0030017",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030017",
            "categories": []
        },
        {
            "id": "MIM:618851",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618851",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FA60-1",
            "uniprot_ac": "E7FA60",
            "uniprot_id": "E7FA60_DANRE",
            "refseq_ac": "NP_001373736",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial import inner membrane translocase subunit TIM22",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit Tim22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "timm22",
                    "type": "recommended"
                },
                {
                    "name": "timm22",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FA60-1",
            "evidence": [
                {
                    "id": "0112116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQ85-1",
            "uniprot_ac": "Q9CQ85",
            "uniprot_id": "TIM22_MOUSE",
            "refseq_ac": "NP_001278090",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial import inner membrane translocase subunit Tim22",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit Tim22 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit Tim22",
                    "type": "synonym"
                },
                {
                    "name": "preprotein translocase",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane 22 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Timm22",
                    "type": "recommended"
                },
                {
                    "name": "Tim22",
                    "type": "synonym"
                },
                {
                    "name": "Timm22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQ85-1",
            "evidence": [
                {
                    "id": "0112116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y584-1",
            "uniprot_ac": "Q9Y584",
            "uniprot_id": "TIM22_HUMAN",
            "refseq_ac": "NP_037469",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial import inner membrane translocase subunit Tim22",
                    "type": "recommended"
                },
                {
                    "name": "Testis-expressed protein 4",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit Tim22",
                    "type": "synonym"
                },
                {
                    "name": "testis-expressed protein 4",
                    "type": "synonym"
                },
                {
                    "name": "testis-expressed sequence 4",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane 22 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TIMM22",
                    "type": "recommended"
                },
                {
                    "name": "COXPD43",
                    "type": "synonym"
                },
                {
                    "name": "TEX4",
                    "type": "synonym"
                },
                {
                    "name": "TIM22",
                    "type": "synonym"
                },
                {
                    "name": "TIMM22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y584-1",
            "evidence": [
                {
                    "id": "618851",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618851"
                },
                {
                    "id": "0112116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12328-1",
            "uniprot_ac": "Q12328",
            "uniprot_id": "TIM22_YEAST",
            "refseq_ac": "NP_010064",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial import inner membrane translocase subunit TIM22",
                    "type": "recommended"
                },
                {
                    "name": "translocation channel protein TIM22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TIM22",
                    "type": "recommended"
                },
                {
                    "name": "D0884",
                    "type": "synonym"
                },
                {
                    "name": "TIM22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12328-1",
            "evidence": [
                {
                    "id": "0112116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JKW1-1",
            "uniprot_ac": "Q9JKW1",
            "uniprot_id": "TIM22_RAT",
            "refseq_ac": "NP_116007",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial import inner membrane translocase subunit Tim22",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit Tim22",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane 22 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Timm22",
                    "type": "recommended"
                },
                {
                    "name": "Tim22",
                    "type": "synonym"
                },
                {
                    "name": "Timm22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKW1-1",
            "evidence": [
                {
                    "id": "0112116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IN78-1",
            "uniprot_ac": "Q8IN78",
            "uniprot_id": "TIM22_DROME",
            "refseq_ac": "NP_732364",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial import inner membrane translocase subunit Tim22",
                    "type": "recommended"
                },
                {
                    "name": "CG31229-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tim22",
                    "type": "recommended"
                },
                {
                    "name": "CG31229",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31229",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IN78-1",
            "evidence": [
                {
                    "id": "0112116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112116"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112116"
}