{
    "disease_id": "DOID:0070243",
    "recommended_name": {
        "id": "DOID:0070243",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070243",
        "name": "primary coenzyme Q10 deficiency 6",
        "description": "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070243",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070243",
            "name": "COQ10D6",
            "description": ""
        },
        {
            "id": "DOID:0070243",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070243",
            "name": "coenzyme Q10 deficiency, primary, 6",
            "description": ""
        },
        {
            "id": "DOID:0070243",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070243",
            "name": "familial steroid-resistant nephrotic syndrome with sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013836",
            "name": "familial steroid-resistant nephrotic syndrome with sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013836",
            "name": "coenzyme Q10 deficiency, primary, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013836",
            "name": "COQ10D6",
            "description": ""
        },
        {
            "id": "MONDO:0013836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013836",
            "name": "coenzyme Q10 deficiency, primary, 6",
            "description": ""
        },
        {
            "id": "MIM:614650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614650",
            "name": "Coenzyme Q10 deficiency, primary, 6",
            "description": "Coenzyme Q10 deficiency, primary, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070243"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070243",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070243",
            "categories": []
        },
        {
            "id": "MONDO:0013836",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013836",
            "categories": []
        },
        {
            "id": "MIM:614650",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614650",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1RAX8-1",
            "uniprot_ac": "F1RAX8",
            "uniprot_id": "COQ6_DANRE",
            "refseq_ac": "NP_001038869",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.15.45",
                    "type": "synonym"
                },
                {
                    "name": "1.14.15.46",
                    "type": "synonym"
                },
                {
                    "name": "2-methoxy-6-polyprenolphenol 4-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme Q10 monooxygenase 6",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q10 monooxygenase 6",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q6 homolog, monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis monooxygenase COQ6, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "coq6",
                    "type": "recommended"
                },
                {
                    "name": "COQ6",
                    "type": "synonym"
                },
                {
                    "name": "coq6",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153379",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RAX8-1",
            "evidence": [
                {
                    "id": "0070243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R1S0-1",
            "uniprot_ac": "Q8R1S0",
            "uniprot_id": "COQ6_MOUSE",
            "refseq_ac": "NP_766170",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.15.45",
                    "type": "synonym"
                },
                {
                    "name": "1.14.15.46",
                    "type": "synonym"
                },
                {
                    "name": "2-methoxy-6-polyprenolphenol 4-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme Q10 monooxygenase 6",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q10 monooxygenase 6",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis monooxygenase COQ6, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis monooxygenase COQ6, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq6",
                    "type": "recommended"
                },
                {
                    "name": "5930427M12Rik",
                    "type": "synonym"
                },
                {
                    "name": "COQ6",
                    "type": "synonym"
                },
                {
                    "name": "Coq6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R1S0-1",
            "evidence": [
                {
                    "id": "0070243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2Z9-1",
            "uniprot_ac": "Q9Y2Z9",
            "uniprot_id": "COQ6_HUMAN",
            "refseq_ac": "NP_872282",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.15.45",
                    "type": "synonym"
                },
                {
                    "name": "1.14.15.46",
                    "type": "synonym"
                },
                {
                    "name": "2-methoxy-6-polyprenolphenol 4-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme Q10 monooxygenase 6",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q10 monooxygenase 6",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q6 homolog, monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform a",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis monooxygenase COQ6, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COQ6",
                    "type": "recommended"
                },
                {
                    "name": "CGI-10",
                    "type": "synonym"
                },
                {
                    "name": "CGI10",
                    "type": "synonym"
                },
                {
                    "name": "COQ10D6",
                    "type": "synonym"
                },
                {
                    "name": "COQ6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2Z9-1",
            "evidence": [
                {
                    "id": "614650",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614650"
                },
                {
                    "id": "0070243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53318-1",
            "uniprot_ac": "P53318",
            "uniprot_id": "COQ6_YEAST",
            "refseq_ac": "NP_011771",
            "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": "Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.15.45",
                    "type": "synonym"
                },
                {
                    "name": "1.14.15.46",
                    "type": "synonym"
                },
                {
                    "name": "2-methoxy-6-polyprenolphenol 4-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "3.5.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinone C4-deaminase",
                    "type": "synonym"
                },
                {
                    "name": "putative N,N-dimethylaniline monooxygenase COQ6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COQ6",
                    "type": "recommended"
                },
                {
                    "name": "COQ6",
                    "type": "synonym"
                },
                {
                    "name": "G9165",
                    "type": "synonym"
                }
            ],
            "record_id": "P53318-1",
            "evidence": [
                {
                    "id": "0070243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68FU7-1",
            "uniprot_ac": "Q68FU7",
            "uniprot_id": "COQ6_RAT",
            "refseq_ac": "NP_001011983",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.15.45",
                    "type": "synonym"
                },
                {
                    "name": "1.14.15.46",
                    "type": "synonym"
                },
                {
                    "name": "2-methoxy-6-polyprenolphenol 4-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme Q10 monooxygenase 6",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q10 monooxygenase 6",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q6 homolog, monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis monooxygenase COQ6, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis monooxygenase COQ6, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq6",
                    "type": "recommended"
                },
                {
                    "name": "Coq6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68FU7-1",
            "evidence": [
                {
                    "id": "0070243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMQ5-1",
            "uniprot_ac": "Q9VMQ5",
            "uniprot_id": "COQ6_DROME",
            "refseq_ac": "NP_608934",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.15.45",
                    "type": "synonym"
                },
                {
                    "name": "1.14.15.46",
                    "type": "synonym"
                },
                {
                    "name": "2-methoxy-6-polyprenolphenol 4-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "CG7277-PA",
                    "type": "synonym"
                },
                {
                    "name": "Coq6-PA",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq6",
                    "type": "recommended"
                },
                {
                    "name": "CG7277",
                    "type": "synonym"
                },
                {
                    "name": "Coq6",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7277",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMQ5-1",
            "evidence": [
                {
                    "id": "0070243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070243"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070243"
}