{
    "disease_id": "DOID:0070493",
    "recommended_name": {
        "id": "DOID:0070493",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070493",
        "name": "mitochondrial complex IV deficiency nuclear type 4",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070493",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070493",
            "name": "MC4DN4",
            "description": ""
        },
        {
            "id": "MONDO:0033636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033636",
            "name": "mitochondrial complex IV deficiency, nuclear type 4",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the SCO1 gene."
        },
        {
            "id": "MONDO:0033636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033636",
            "name": "MC4DN4",
            "description": ""
        },
        {
            "id": "MONDO:0033636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033636",
            "name": "mitochondrial complex IV deficiency, nuclear type 4",
            "description": ""
        },
        {
            "id": "MIM:619048",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619048",
            "name": "Mitochondrial complex IV deficiency, nuclear type 4",
            "description": "Mitochondrial complex IV deficiency, nuclear type 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070493"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070493",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070493",
            "categories": []
        },
        {
            "id": "MONDO:0033636",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033636",
            "categories": []
        },
        {
            "id": "MIM:619048",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619048",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FD19-1",
            "uniprot_ac": "E7FD19",
            "uniprot_id": "E7FD19_DANRE",
            "refseq_ac": "NP_001296727",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SCO1 homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "SCO cytochrome c oxidase assembly protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SCO1 cytochrome c oxidase assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "protein SCO1 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sco1",
                    "type": "recommended"
                },
                {
                    "name": "sco1",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FD19-1",
            "evidence": [
                {
                    "id": "0070493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RH02-1",
            "uniprot_ac": "Q5RH02",
            "uniprot_id": "SCO2_DANRE",
            "refseq_ac": "NP_001038697",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly factor SCO2",
                    "type": "recommended"
                },
                {
                    "name": "SCO cytochrome c oxidase assembly protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SCO cytochrome oxidase deficient homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "SCO2 cytochrome c oxidase assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor SCO2",
                    "type": "synonym"
                },
                {
                    "name": "protein SCO2 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sco2",
                    "type": "recommended"
                },
                {
                    "name": "sco2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-202b22.3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RH02-1",
            "evidence": [
                {
                    "id": "0070493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SUC9-1",
            "uniprot_ac": "Q5SUC9",
            "uniprot_id": "SCO1_MOUSE",
            "refseq_ac": "NP_001035115",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly factor SCO1",
                    "type": "recommended"
                },
                {
                    "name": "SCO cytochrome oxidase deficient homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor SCO1",
                    "type": "synonym"
                },
                {
                    "name": "protein SCO1 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sco1",
                    "type": "recommended"
                },
                {
                    "name": "2610001C07Rik",
                    "type": "synonym"
                },
                {
                    "name": "D11Bwg1310e",
                    "type": "synonym"
                },
                {
                    "name": "Sco1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SUC9-1",
            "evidence": [
                {
                    "id": "0070493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VCL2-1",
            "uniprot_ac": "Q8VCL2",
            "uniprot_id": "SCO2_MOUSE",
            "refseq_ac": "NP_001104758",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly protein SCO2",
                    "type": "recommended"
                },
                {
                    "name": "SCO cytochrome oxidase deficient homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein SCO2",
                    "type": "synonym"
                },
                {
                    "name": "protein SCO2 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sco2",
                    "type": "recommended"
                },
                {
                    "name": "Sco2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VCL2-1",
            "evidence": [
                {
                    "id": "0070493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75880-1",
            "uniprot_ac": "O75880",
            "uniprot_id": "SCO1_HUMAN",
            "refseq_ac": "NP_004580",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly factor SCO1",
                    "type": "recommended"
                },
                {
                    "name": "SCO cytochrome c oxidase assembly protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SCO cytochrome oxidase deficient homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "SCO1, cytochrome c oxidase assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor SCO1",
                    "type": "synonym"
                },
                {
                    "name": "protein SCO1 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCO1",
                    "type": "recommended"
                },
                {
                    "name": "MC4DN4",
                    "type": "synonym"
                },
                {
                    "name": "SCO1",
                    "type": "synonym"
                },
                {
                    "name": "SCOD1",
                    "type": "synonym"
                }
            ],
            "record_id": "O75880-1",
            "evidence": [
                {
                    "id": "619048",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619048"
                },
                {
                    "id": "0070493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38072-1",
            "uniprot_ac": "P38072",
            "uniprot_id": "SCO2_YEAST",
            "refseq_ac": "NP_009580",
            "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": "Cytochrome c oxidase assembly factor SCO2",
                    "type": "recommended"
                },
                {
                    "name": "putative thioredoxin peroxidase SCO2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCO2",
                    "type": "recommended"
                },
                {
                    "name": "SCO2",
                    "type": "synonym"
                },
                {
                    "name": "YBR0308",
                    "type": "synonym"
                }
            ],
            "record_id": "P38072-1",
            "evidence": [
                {
                    "id": "0070493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23833-1",
            "uniprot_ac": "P23833",
            "uniprot_id": "SCO1_YEAST",
            "refseq_ac": "NP_009593",
            "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": "Cytochrome c oxidase assembly factor SCO1",
                    "type": "recommended"
                },
                {
                    "name": "Cu-binding protein SCO1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCO1",
                    "type": "recommended"
                },
                {
                    "name": "PET161",
                    "type": "synonym"
                },
                {
                    "name": "SCO1",
                    "type": "synonym"
                },
                {
                    "name": "YBR0406",
                    "type": "synonym"
                }
            ],
            "record_id": "P23833-1",
            "evidence": [
                {
                    "id": "0070493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LFJ4-1",
            "uniprot_ac": "A0ABK0LFJ4",
            "uniprot_id": "A0ABK0LFJ4_RAT",
            "refseq_ac": "NP_001166845",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SCO cytochrome c oxidase assembly protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SCO cytochrome oxidase deficient homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "SCO1 cytochrome c oxidase assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "Synthesis of cytochrome C oxidase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sco1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1559538",
                    "type": "synonym"
                },
                {
                    "name": "Sco1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LFJ4-1",
            "evidence": [
                {
                    "id": "0070493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMX4-1",
            "uniprot_ac": "Q9VMX4",
            "uniprot_id": "Q9VMX4_DROME",
            "refseq_ac": "NP_608884",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8885-PA",
                    "type": "synonym"
                },
                {
                    "name": "SCO1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Scox-PA",
                    "type": "synonym"
                },
                {
                    "name": "Synthesis of cytochrome c oxidase",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) SH1783",
                    "type": "synonym"
                },
                {
                    "name": "synthesis of cytochrome c oxidase X",
                    "type": "synonym"
                },
                {
                    "name": "synthesis of cytochrome c oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scox",
                    "type": "recommended"
                },
                {
                    "name": "CG8885",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8885",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8885",
                    "type": "synonym"
                },
                {
                    "name": "SCO1",
                    "type": "synonym"
                },
                {
                    "name": "SCOX",
                    "type": "synonym"
                },
                {
                    "name": "SCO",
                    "type": "synonym"
                },
                {
                    "name": "Scox",
                    "type": "synonym"
                },
                {
                    "name": "dSco1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH1783",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2 1783",
                    "type": "synonym"
                },
                {
                    "name": "scox",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMX4-1",
            "evidence": [
                {
                    "id": "0070493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43819-1",
            "uniprot_ac": "O43819",
            "uniprot_id": "SCO2_HUMAN",
            "refseq_ac": "NP_001162580",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly factor SCO2",
                    "type": "recommended"
                },
                {
                    "name": "Platelet-derived endothelial cell growth factor",
                    "type": "synonym"
                },
                {
                    "name": "SCO cytochrome c oxidase assembly protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SCO cytochrome oxidase deficient homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "SCO2, cytochrome c oxidase assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor SCO2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor SCO2",
                    "type": "synonym"
                },
                {
                    "name": "protein SCO2 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCO2",
                    "type": "recommended"
                },
                {
                    "name": "CEMCOX1",
                    "type": "synonym"
                },
                {
                    "name": "ECGF1",
                    "type": "synonym"
                },
                {
                    "name": "Gliostatin",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN2",
                    "type": "synonym"
                },
                {
                    "name": "MYP6",
                    "type": "synonym"
                },
                {
                    "name": "PD-ECGF",
                    "type": "synonym"
                },
                {
                    "name": "SCO1L",
                    "type": "synonym"
                },
                {
                    "name": "SCO2",
                    "type": "synonym"
                },
                {
                    "name": "TP",
                    "type": "synonym"
                },
                {
                    "name": "TdRPase",
                    "type": "synonym"
                }
            ],
            "record_id": "O43819-1",
            "evidence": [
                {
                    "id": "0070493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070493"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070493"
}