{
    "disease_id": "DOID:0070492",
    "recommended_name": {
        "id": "DOID:0070492",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070492",
        "name": "mitochondrial complex IV deficiency nuclear type 3",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12."
    },
    "synonyms": [
        {
            "id": "DOID:0070492",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070492",
            "name": "MC4DN3",
            "description": ""
        },
        {
            "id": "MONDO:0033635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033635",
            "name": "mitochondrial complex IV deficiency, nuclear type 3",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX10 gene."
        },
        {
            "id": "MONDO:0033635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033635",
            "name": "MC4DN3",
            "description": ""
        },
        {
            "id": "MONDO:0033635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033635",
            "name": "mitochondrial complex IV deficiency, nuclear type 3",
            "description": ""
        },
        {
            "id": "MIM:619046",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619046",
            "name": "Mitochondrial complex IV deficiency, nuclear type 3",
            "description": "Mitochondrial complex IV deficiency, nuclear type 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070492"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070492",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070492",
            "categories": []
        },
        {
            "id": "MONDO:0033635",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033635",
            "categories": []
        },
        {
            "id": "MIM:619046",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619046",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QL30-1",
            "uniprot_ac": "F1QL30",
            "uniprot_id": "F1QL30_DANRE",
            "refseq_ac": "NP_001159731",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protoheme IX farnesyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor",
                    "type": "synonym"
                },
                {
                    "name": "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Heme O synthase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly homolog 10",
                    "type": "synonym"
                },
                {
                    "name": "protoheme IX farnesyltransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cox10",
                    "type": "recommended"
                },
                {
                    "name": "cox10",
                    "type": "synonym"
                },
                {
                    "name": "im:7145568",
                    "type": "synonym"
                },
                {
                    "name": "im:7157205",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb18a03",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QL30-1",
            "evidence": [
                {
                    "id": "0070492",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070492"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CFY5-1",
            "uniprot_ac": "Q8CFY5",
            "uniprot_id": "COX10_MOUSE",
            "refseq_ac": "NP_848466",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protoheme IX farnesyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.141",
                    "type": "synonym"
                },
                {
                    "name": "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Heme O synthase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein 10",
                    "type": "synonym"
                },
                {
                    "name": "heme O synthase",
                    "type": "synonym"
                },
                {
                    "name": "protoheme IX farnesyltransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox10",
                    "type": "recommended"
                },
                {
                    "name": "2410004F01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cox10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CFY5-1",
            "evidence": [
                {
                    "id": "0070492",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070492"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12887-1",
            "uniprot_ac": "Q12887",
            "uniprot_id": "COX10_HUMAN",
            "refseq_ac": "NP_001294",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protoheme IX farnesyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.141",
                    "type": "synonym"
                },
                {
                    "name": "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor",
                    "type": "synonym"
                },
                {
                    "name": "Heme O synthase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly homolog 10",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit X",
                    "type": "synonym"
                },
                {
                    "name": "heme A: farnesyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "heme O synthase",
                    "type": "synonym"
                },
                {
                    "name": "protoheme IX farnesyltransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX10",
                    "type": "recommended"
                },
                {
                    "name": "COX10",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12887-1",
            "evidence": [
                {
                    "id": "619046",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619046"
                },
                {
                    "id": "0070492",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070492"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21592-1",
            "uniprot_ac": "P21592",
            "uniprot_id": "COX10_YEAST",
            "refseq_ac": "NP_015153",
            "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": "Protoheme IX farnesyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.141",
                    "type": "synonym"
                },
                {
                    "name": "HOS",
                    "type": "synonym"
                },
                {
                    "name": "Heme O synthase",
                    "type": "synonym"
                },
                {
                    "name": "protoheme IX farnesyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX10",
                    "type": "recommended"
                },
                {
                    "name": "COX10",
                    "type": "synonym"
                }
            ],
            "record_id": "P21592-1",
            "evidence": [
                {
                    "id": "0070492",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070492"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LVF4-1",
            "uniprot_ac": "F1LVF4",
            "uniprot_id": "F1LVF4_RAT",
            "refseq_ac": "NP_001385926",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protoheme IX farnesyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor",
                    "type": "synonym"
                },
                {
                    "name": "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Heme O synthase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly homolog 10",
                    "type": "synonym"
                },
                {
                    "name": "protoheme IX farnesyltransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox10",
                    "type": "recommended"
                },
                {
                    "name": "Cox10",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LVF4-1",
            "evidence": [
                {
                    "id": "0070492",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070492"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKZ1-1",
            "uniprot_ac": "Q9VKZ1",
            "uniprot_id": "Q9VKZ1_DROME",
            "refseq_ac": "NP_609382",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protoheme IX farnesyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.141",
                    "type": "synonym"
                },
                {
                    "name": "CG5037-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cox10-PA",
                    "type": "synonym"
                },
                {
                    "name": "Heme O synthase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 10",
                    "type": "synonym"
                },
                {
                    "name": "protoheme IX farnesyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox10",
                    "type": "recommended"
                },
                {
                    "name": "CG5037",
                    "type": "synonym"
                },
                {
                    "name": "COXX",
                    "type": "synonym"
                },
                {
                    "name": "Cox10",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5037",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5037",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKZ1-1",
            "evidence": [
                {
                    "id": "0070492",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070492"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070492"
}