{
    "disease_id": "DOID:0070495",
    "recommended_name": {
        "id": "DOID:0070495",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070495",
        "name": "mitochondrial complex IV deficiency nuclear type 8",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070495",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070495",
            "name": "MC4DN8",
            "description": ""
        },
        {
            "id": "MONDO:0033638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033638",
            "name": "mitochondrial complex IV deficiency, nuclear type 8",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the TACO1 gene."
        },
        {
            "id": "MONDO:0033638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033638",
            "name": "MC4DN8",
            "description": ""
        },
        {
            "id": "MONDO:0033638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033638",
            "name": "mitochondrial complex IV deficiency, nuclear type 8",
            "description": ""
        },
        {
            "id": "MIM:619052",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619052",
            "name": "Mitochondrial complex IV deficiency, nuclear type 8",
            "description": "Mitochondrial complex IV deficiency, nuclear type 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070495"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070495",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070495",
            "categories": []
        },
        {
            "id": "MONDO:0033638",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033638",
            "categories": []
        },
        {
            "id": "MIM:619052",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619052",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QP29-1",
            "uniprot_ac": "F1QP29",
            "uniprot_id": "F1QP29_DANRE",
            "refseq_ac": "NP_001076342",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translational activator of cytochrome c oxidase 1",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 44",
                    "type": "synonym"
                },
                {
                    "name": "translational activator of cytochrome c oxidase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "taco1",
                    "type": "recommended"
                },
                {
                    "name": "taco1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:162204",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QP29-1",
            "evidence": [
                {
                    "id": "0070495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070495"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K0Z7-1",
            "uniprot_ac": "Q8K0Z7",
            "uniprot_id": "TACO1_MOUSE",
            "refseq_ac": "NP_081622",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translational activator of cytochrome c oxidase 1",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 44",
                    "type": "synonym"
                },
                {
                    "name": "Translational activator of mitochondrially-encoded cytochrome c oxidase 1",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 44",
                    "type": "synonym"
                },
                {
                    "name": "translational activator of cytochrome c oxidase 1",
                    "type": "synonym"
                },
                {
                    "name": "translational activator of mitochondrially-encoded cytochrome c oxidase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taco1",
                    "type": "recommended"
                },
                {
                    "name": "2310066I18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc44",
                    "type": "synonym"
                },
                {
                    "name": "Taco1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K0Z7-1",
            "evidence": [
                {
                    "id": "0070495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070495"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35740-1",
            "uniprot_ac": "O35740",
            "uniprot_id": "CITE2_MOUSE",
            "refseq_ac": "NP_034958",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cbp/p300-interacting transactivator 2",
                    "type": "recommended"
                },
                {
                    "name": "MRG-1",
                    "type": "synonym"
                },
                {
                    "name": "MSG-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "P35srj",
                    "type": "synonym"
                },
                {
                    "name": "cbp/p300-interacting transactivator 2",
                    "type": "synonym"
                },
                {
                    "name": "melanocyte specific gene 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cited2",
                    "type": "recommended"
                },
                {
                    "name": "Cited2",
                    "type": "synonym"
                },
                {
                    "name": "ER154-like",
                    "type": "synonym"
                },
                {
                    "name": "Mrg1",
                    "type": "synonym"
                },
                {
                    "name": "Msg2",
                    "type": "synonym"
                },
                {
                    "name": "p35srj",
                    "type": "synonym"
                }
            ],
            "record_id": "O35740-1",
            "evidence": [
                {
                    "id": "0070495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070495"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BSH4-1",
            "uniprot_ac": "Q9BSH4",
            "uniprot_id": "TACO1_HUMAN",
            "refseq_ac": "NP_057444",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translational activator of cytochrome c oxidase 1",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 44",
                    "type": "synonym"
                },
                {
                    "name": "Translational activator of mitochondrially-encoded cytochrome c oxidase I",
                    "type": "synonym"
                },
                {
                    "name": "clone HQ0477 PRO0477p",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 44",
                    "type": "synonym"
                },
                {
                    "name": "translational activator of COX I",
                    "type": "synonym"
                },
                {
                    "name": "translational activator of cytochrome c oxidase 1",
                    "type": "synonym"
                },
                {
                    "name": "translational activator of mitochondrially encoded cytochrome c oxidase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TACO1",
                    "type": "recommended"
                },
                {
                    "name": "CCDC44",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN8",
                    "type": "synonym"
                },
                {
                    "name": "PRO0477",
                    "type": "synonym"
                },
                {
                    "name": "TACO1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BSH4-1",
            "evidence": [
                {
                    "id": "619052",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619052"
                },
                {
                    "id": "0070495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070495"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53212-1",
            "uniprot_ac": "P53212",
            "uniprot_id": "YG1D_YEAST",
            "refseq_ac": "",
            "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": "Probable transcriptional regulatory protein HAH1",
                    "type": "recommended"
                }
            ],
            "gene_names": [],
            "record_id": "P53212-1",
            "evidence": [
                {
                    "id": "0070495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070495"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RYT9-1",
            "uniprot_ac": "B2RYT9",
            "uniprot_id": "TACO1_RAT",
            "refseq_ac": "NP_001101772",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translational activator of cytochrome c oxidase 1",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 44",
                    "type": "synonym"
                },
                {
                    "name": "Translational activator of mitochondrially-encoded cytochrome c oxidase I",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 44",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 44",
                    "type": "synonym"
                },
                {
                    "name": "translational activator of cytochrome c oxidase 1",
                    "type": "synonym"
                },
                {
                    "name": "translational activator of mitochondrially-encoded cytochrome c oxidase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taco1",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc44",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306784",
                    "type": "synonym"
                },
                {
                    "name": "Taco1",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RYT9-1",
            "evidence": [
                {
                    "id": "0070495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070495"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL11-1",
            "uniprot_ac": "Q9VL11",
            "uniprot_id": "Q9VL11_DROME",
            "refseq_ac": "NP_609366",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional regulatory protein",
                    "type": "recommended"
                },
                {
                    "name": "CG4957-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG4957",
                    "type": "recommended"
                },
                {
                    "name": "CG4957",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4957",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4957",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VL11-1",
            "evidence": [
                {
                    "id": "0070495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070495"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070495"
}