{
    "disease_id": "DOID:0070244",
    "recommended_name": {
        "id": "DOID:0070244",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070244",
        "name": "primary coenzyme Q10 deficiency 7",
        "description": "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11."
    },
    "synonyms": [
        {
            "id": "DOID:0070244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070244",
            "name": "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070244",
            "name": "COQ10D7",
            "description": ""
        },
        {
            "id": "DOID:0070244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070244",
            "name": "COQ4-related neonatal encephalomyopathy",
            "description": ""
        },
        {
            "id": "DOID:0070244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070244",
            "name": "coenzyme Q10 deficiency, primary, 7",
            "description": ""
        },
        {
            "id": "MONDO:0014562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014562",
            "name": "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014562",
            "name": "COQ4-related neonatal encephalomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014562",
            "name": "coenzyme Q10 deficiency, primary, type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014562",
            "name": "COQ10D7",
            "description": ""
        },
        {
            "id": "MONDO:0014562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014562",
            "name": "coenzyme Q10 deficiency, primary, 7",
            "description": ""
        },
        {
            "id": "MIM:616276",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616276",
            "name": "Coenzyme Q10 deficiency, primary, 7",
            "description": "Coenzyme Q10 deficiency, primary, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070244"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070244",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070244",
            "categories": []
        },
        {
            "id": "MONDO:0014562",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014562",
            "categories": []
        },
        {
            "id": "MIM:616276",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616276",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A9JR86-1",
            "uniprot_ac": "A9JR86",
            "uniprot_id": "COQ4_DANRE",
            "refseq_ac": "NP_001108192",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "4.1.1.130",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme Q biosynthesis protein 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "coq4",
                    "type": "recommended"
                },
                {
                    "name": "COQ4",
                    "type": "synonym"
                },
                {
                    "name": "coq4",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-170o10.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A9JR86-1",
            "evidence": [
                {
                    "id": "0070244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BGB8-1",
            "uniprot_ac": "Q8BGB8",
            "uniprot_id": "COQ4_MOUSE",
            "refseq_ac": "NP_848808",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "4.1.1.130",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme Q biosynthesis protein 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q biosynthesis protein 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis protein COQ4 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq4",
                    "type": "recommended"
                },
                {
                    "name": "Coq4",
                    "type": "synonym"
                },
                {
                    "name": "D2Ertd97e",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BGB8-1",
            "evidence": [
                {
                    "id": "0070244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y3A0-1",
            "uniprot_ac": "Q9Y3A0",
            "uniprot_id": "COQ4_HUMAN",
            "refseq_ac": "NP_057119",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "4.1.1.130",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme Q biosynthesis protein 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q biosynthesis protein 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis protein COQ4 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COQ4",
                    "type": "recommended"
                },
                {
                    "name": "CGI-92",
                    "type": "synonym"
                },
                {
                    "name": "COQ10D7",
                    "type": "synonym"
                },
                {
                    "name": "COQ4",
                    "type": "synonym"
                },
                {
                    "name": "SPAX10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y3A0-1",
            "evidence": [
                {
                    "id": "616276",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616276"
                },
                {
                    "id": "0070244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O13525-1",
            "uniprot_ac": "O13525",
            "uniprot_id": "COQ4_YEAST",
            "refseq_ac": "NP_010490",
            "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 protein COQ4, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "4.1.1.130",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme Q biosynthesis protein 4",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis protein COQ4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COQ4",
                    "type": "recommended"
                },
                {
                    "name": "COQ4",
                    "type": "synonym"
                },
                {
                    "name": "YD8142.01",
                    "type": "synonym"
                }
            ],
            "record_id": "O13525-1",
            "evidence": [
                {
                    "id": "0070244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4FZU1-1",
            "uniprot_ac": "Q4FZU1",
            "uniprot_id": "COQ4_RAT",
            "refseq_ac": "NP_001026832",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "4.1.1.130",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme Q biosynthesis protein 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q biosynthesis protein 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis protein COQ4 homolog, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis protein COQ4 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq4",
                    "type": "recommended"
                },
                {
                    "name": "COQ4",
                    "type": "synonym"
                },
                {
                    "name": "Coq4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4FZU1-1",
            "evidence": [
                {
                    "id": "0070244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVG6-1",
            "uniprot_ac": "Q9VVG6",
            "uniprot_id": "COQ4_DROME",
            "refseq_ac": "NP_001246815",
            "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 protein COQ4 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "4.1.1.130",
                    "type": "synonym"
                },
                {
                    "name": "CG32174-PD",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme Q biosynthesis protein 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Coq4-PD",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q4, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq4",
                    "type": "recommended"
                },
                {
                    "name": "CG32174",
                    "type": "synonym"
                },
                {
                    "name": "CG3877",
                    "type": "synonym"
                },
                {
                    "name": "Coq4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32174",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32174",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVG6-1",
            "evidence": [
                {
                    "id": "0070244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070244"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070244"
}