{
    "disease_id": "DOID:0070240",
    "recommended_name": {
        "id": "DOID:0070240",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070240",
        "name": "primary coenzyme Q10 deficiency 3",
        "description": "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070240",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070240",
            "name": "COQ10D3",
            "description": ""
        },
        {
            "id": "DOID:0070240",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070240",
            "name": "coenzyme Q10 deficiency, primary, 3",
            "description": ""
        },
        {
            "id": "MONDO:0013838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013838",
            "name": "coenzyme Q10 deficiency, primary, 3",
            "description": "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene."
        },
        {
            "id": "MONDO:0013838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013838",
            "name": "PDSS2 coenzyme Q10 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013838",
            "name": "coenzyme Q10 deficiency caused by mutation in PDSS2",
            "description": ""
        },
        {
            "id": "MONDO:0013838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013838",
            "name": "coenzyme Q10 deficiency, primary, 3",
            "description": ""
        },
        {
            "id": "MONDO:0013838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013838",
            "name": "coenzyme Q10 deficiency, primary, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013838",
            "name": "COQ10D3",
            "description": ""
        },
        {
            "id": "MIM:614652",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614652",
            "name": "Coenzyme Q10 deficiency, primary, 3",
            "description": "Coenzyme Q10 deficiency, primary, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070240"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070240",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070240",
            "categories": []
        },
        {
            "id": "MONDO:0013838",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013838",
            "categories": []
        },
        {
            "id": "MIM:614652",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614652",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q33DR3-1",
            "uniprot_ac": "Q33DR3",
            "uniprot_id": "DLP1_MOUSE",
            "refseq_ac": "NP_001161761",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "All trans-polyprenyl-diphosphate synthase PDSS2",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.91",
                    "type": "synonym"
                },
                {
                    "name": "All-trans-decaprenyl-diphosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Decaprenyl-diphosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Solanesyl-diphosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "all trans-polyprenyl-diphosphate synthase PDSS2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "all trans-polyprenyl-diphosphate synthase PDSS2",
                    "type": "synonym"
                },
                {
                    "name": "all-trans-decaprenyl-diphosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "decaprenyl pyrophosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "decaprenyl pyrophosphate synthetase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "decaprenyl-diphosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "prenyltransferase-like mitochondrial protein",
                    "type": "synonym"
                },
                {
                    "name": "solanesyl-diphosphate synthase subunit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdss2",
                    "type": "recommended"
                },
                {
                    "name": "5430420P03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dlp1",
                    "type": "synonym"
                },
                {
                    "name": "Gm60",
                    "type": "synonym"
                },
                {
                    "name": "Pdss2",
                    "type": "synonym"
                },
                {
                    "name": "Plmp",
                    "type": "synonym"
                },
                {
                    "name": "kd",
                    "type": "synonym"
                },
                {
                    "name": "mDLP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q33DR3-1",
            "evidence": [
                {
                    "id": "0070240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86YH6-1",
            "uniprot_ac": "Q86YH6",
            "uniprot_id": "DLP1_HUMAN",
            "refseq_ac": "NP_065114",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "All trans-polyprenyl-diphosphate synthase PDSS2",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.91",
                    "type": "synonym"
                },
                {
                    "name": "All-trans-decaprenyl-diphosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Candidate tumor suppressor protein",
                    "type": "synonym"
                },
                {
                    "name": "Decaprenyl pyrophosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Decaprenyl-diphosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Solanesyl-diphosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "all trans-polyprenyl-diphosphate synthase PDSS2",
                    "type": "synonym"
                },
                {
                    "name": "all-trans-decaprenyl-diphosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "decaprenyl pyrophosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "decaprenyl pyrophosphate synthetase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "prenyl (decaprenyl) diphosphate synthase, subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "solanesyl-diphosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "subunit 2 of decaprenyl diphosphate synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDSS2",
                    "type": "recommended"
                },
                {
                    "name": "C6orf210",
                    "type": "synonym"
                },
                {
                    "name": "COQ10D3",
                    "type": "synonym"
                },
                {
                    "name": "COQ1B",
                    "type": "synonym"
                },
                {
                    "name": "DLP1",
                    "type": "synonym"
                },
                {
                    "name": "PDSS2",
                    "type": "synonym"
                },
                {
                    "name": "bA59I9.3",
                    "type": "synonym"
                },
                {
                    "name": "hDLP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86YH6-1",
            "evidence": [
                {
                    "id": "614652",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614652"
                },
                {
                    "id": "0070240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U2R1-1",
            "uniprot_ac": "Q5U2R1",
            "uniprot_id": "DLP1_RAT",
            "refseq_ac": "NP_001014271",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "All trans-polyprenyl-diphosphate synthase PDSS2",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.91",
                    "type": "synonym"
                },
                {
                    "name": "All-trans-decaprenyl-diphosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Decaprenyl-diphosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Solanesyl-diphosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "all trans-polyprenyl-diphosphate synthase PDSS2",
                    "type": "synonym"
                },
                {
                    "name": "all-trans-decaprenyl-diphosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "decaprenyl pyrophosphate synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "decaprenyl pyrophosphate synthetase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "prenyl (decaprenyl) diphosphate synthase, subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "prenyl (solanesyl) diphosphate synthase, subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "solanesyl-diphosphate synthase subunit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdss2",
                    "type": "recommended"
                },
                {
                    "name": "Dlp1",
                    "type": "synonym"
                },
                {
                    "name": "Pdss2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U2R1-1",
            "evidence": [
                {
                    "id": "0070240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VP87-1",
            "uniprot_ac": "Q9VP87",
            "uniprot_id": "Q9VP87_DROME",
            "refseq_ac": "NP_001287138",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10585-PB",
                    "type": "synonym"
                },
                {
                    "name": "COQ1 subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Decaprenyl diphosphate synthase subunit 2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Decaprenyl diphosphate synthase subunit 2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Pdss2-PB",
                    "type": "synonym"
                },
                {
                    "name": "decaprenyl diphosphate synthase subunit 2, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdss2",
                    "type": "recommended"
                },
                {
                    "name": "CG10585",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10585",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10585",
                    "type": "synonym"
                },
                {
                    "name": "Pdss2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VP87-1",
            "evidence": [
                {
                    "id": "0070240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070240"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070240"
}