{
    "disease_id": "DOID:0070238",
    "recommended_name": {
        "id": "DOID:0070238",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070238",
        "name": "primary coenzyme Q10 deficiency 1",
        "description": "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23."
    },
    "synonyms": [
        {
            "id": "DOID:0070238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070238",
            "name": "COQ10D1",
            "description": ""
        },
        {
            "id": "DOID:0070238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070238",
            "name": "CoQ deficiency 1",
            "description": ""
        },
        {
            "id": "DOID:0070238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070238",
            "name": "CoQ10 deficiency, primary, 1",
            "description": ""
        },
        {
            "id": "DOID:0070238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070238",
            "name": "coenzyme Q deficiency 1",
            "description": ""
        },
        {
            "id": "DOID:0070238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070238",
            "name": "ubiquinone deficiency 1",
            "description": ""
        },
        {
            "id": "MONDO:0011829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011829",
            "name": "coenzyme Q10 deficiency, primary, 1",
            "description": "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene."
        },
        {
            "id": "MONDO:0011829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011829",
            "name": "COQ2 coenzyme Q10 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011829",
            "name": "coenzyme Q10 deficiency caused by mutation in COQ2",
            "description": ""
        },
        {
            "id": "MONDO:0011829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011829",
            "name": "coenzyme Q10 deficiency, primary, 1",
            "description": ""
        },
        {
            "id": "MONDO:0011829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011829",
            "name": "coenzyme Q10 deficiency, primary, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011829",
            "name": "COQ10D1",
            "description": ""
        },
        {
            "id": "MIM:607426",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607426",
            "name": "Coenzyme Q10 deficiency, primary, 1",
            "description": "Coenzyme Q10 deficiency, primary, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070238"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070238",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070238",
            "categories": []
        },
        {
            "id": "MONDO:0011829",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011829",
            "categories": []
        },
        {
            "id": "MIM:607426",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607426",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q66JT7-1",
            "uniprot_ac": "Q66JT7",
            "uniprot_id": "COQ2_MOUSE",
            "refseq_ac": "NP_082254",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.39",
                    "type": "synonym"
                },
                {
                    "name": "4-HB polyprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "PHB:PPT",
                    "type": "synonym"
                },
                {
                    "name": "PHB:polyprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Para-hydroxybenzoate--polyprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q2 homolog, prenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "para-hydroxybenzoate--polyprenyltransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq2",
                    "type": "recommended"
                },
                {
                    "name": "2310002F18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Coq2",
                    "type": "synonym"
                },
                {
                    "name": "PHB:PPT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66JT7-1",
            "evidence": [
                {
                    "id": "0070238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070238"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96H96-1",
            "uniprot_ac": "Q96H96",
            "uniprot_id": "COQ2_HUMAN",
            "refseq_ac": "NP_056512",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.39",
                    "type": "synonym"
                },
                {
                    "name": "4-HB polyprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxybenzoate decaprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "COQ2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "PHB:PPT",
                    "type": "synonym"
                },
                {
                    "name": "PHB:polyprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Para-hydroxybenzoate--polyprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q2 4-hydroxybenzoate polyprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q2 homolog, prenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "hCOQ2",
                    "type": "synonym"
                },
                {
                    "name": "para-hydroxybenzoate-polyprenyltransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COQ2",
                    "type": "recommended"
                },
                {
                    "name": "CL640",
                    "type": "synonym"
                },
                {
                    "name": "COQ10D1",
                    "type": "synonym"
                },
                {
                    "name": "COQ2",
                    "type": "synonym"
                },
                {
                    "name": "MSA1",
                    "type": "synonym"
                },
                {
                    "name": "PHB:PPT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96H96-1",
            "evidence": [
                {
                    "id": "607426",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607426"
                },
                {
                    "id": "0070238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070238"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32378-1",
            "uniprot_ac": "P32378",
            "uniprot_id": "COQ2_YEAST",
            "refseq_ac": "NP_014439",
            "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": "4-hydroxybenzoate polyprenyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.39",
                    "type": "synonym"
                },
                {
                    "name": "4-HB polyprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxybenzoate hexaprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxybenzoate octaprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "PHB:PPT",
                    "type": "synonym"
                },
                {
                    "name": "PHB:polyprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Para-hydroxybenzoate--polyprenyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COQ2",
                    "type": "recommended"
                },
                {
                    "name": "COQ2",
                    "type": "synonym"
                },
                {
                    "name": "N3419",
                    "type": "synonym"
                }
            ],
            "record_id": "P32378-1",
            "evidence": [
                {
                    "id": "0070238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070238"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q499N4-1",
            "uniprot_ac": "Q499N4",
            "uniprot_id": "COQ2_RAT",
            "refseq_ac": "NP_001037720",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.39",
                    "type": "synonym"
                },
                {
                    "name": "4-HB polyprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "PHB:PPT",
                    "type": "synonym"
                },
                {
                    "name": "PHB:polyprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Para-hydroxybenzoate--polyprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q2 4-hydroxybenzoate polyprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q2 homolog, prenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "para-hydroxybenzoate--polyprenyltransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq2",
                    "type": "recommended"
                },
                {
                    "name": "COQ2",
                    "type": "synonym"
                },
                {
                    "name": "Coq2",
                    "type": "synonym"
                },
                {
                    "name": "PHB:PPT",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306722",
                    "type": "synonym"
                }
            ],
            "record_id": "Q499N4-1",
            "evidence": [
                {
                    "id": "0070238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070238"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHS7-1",
            "uniprot_ac": "Q9VHS7",
            "uniprot_id": "COQ2_DROME",
            "refseq_ac": "NP_649789",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.39",
                    "type": "synonym"
                },
                {
                    "name": "4-HB polyprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "CG9613-PA",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme Q biosynthesis protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Coq2-PA",
                    "type": "synonym"
                },
                {
                    "name": "PHB:PPT",
                    "type": "synonym"
                },
                {
                    "name": "PHB:polyprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Para-hydroxybenzoate--polyprenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q biosynthesis protein 2",
                    "type": "synonym"
                },
                {
                    "name": "small boy",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq2",
                    "type": "recommended"
                },
                {
                    "name": "CG9613",
                    "type": "synonym"
                },
                {
                    "name": "COQ2",
                    "type": "synonym"
                },
                {
                    "name": "Coq2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9613",
                    "type": "synonym"
                },
                {
                    "name": "coq2",
                    "type": "synonym"
                },
                {
                    "name": "sbo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHS7-1",
            "evidence": [
                {
                    "id": "0070238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070238"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070238"
}