{
    "disease_id": "DOID:0070239",
    "recommended_name": {
        "id": "DOID:0070239",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070239",
        "name": "primary coenzyme Q10 deficiency 2",
        "description": "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070239",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070239",
            "name": "COQ10D2",
            "description": ""
        },
        {
            "id": "DOID:0070239",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070239",
            "name": "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070239",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070239",
            "name": "coenzyme Q10 deficiency, primary, 2",
            "description": ""
        },
        {
            "id": "DOID:0070239",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070239",
            "name": "deafness-encephaloneuropathy-obesity-valvulopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013837",
            "name": "deafness-encephaloneuropathy-obesity-valvulopathy syndrome",
            "description": "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated."
        },
        {
            "id": "MONDO:0013837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013837",
            "name": "coenzyme Q10 deficiency, primary, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013837",
            "name": "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013837",
            "name": "COQ10D2",
            "description": ""
        },
        {
            "id": "MONDO:0013837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013837",
            "name": "coenzyme Q10 deficiency, primary, 2",
            "description": ""
        },
        {
            "id": "MIM:614651",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614651",
            "name": "Coenzyme Q10 deficiency, primary, 2",
            "description": "Coenzyme Q10 deficiency, primary, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070239"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070239",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070239",
            "categories": []
        },
        {
            "id": "MONDO:0013837",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013837",
            "categories": []
        },
        {
            "id": "MIM:614651",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614651",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q33DR2-1",
            "uniprot_ac": "Q33DR2",
            "uniprot_id": "DPS1_MOUSE",
            "refseq_ac": "NP_062374",
            "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 PDSS1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.91",
                    "type": "synonym"
                },
                {
                    "name": "All-trans-decaprenyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Decaprenyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Solanesyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "TPT 1",
                    "type": "synonym"
                },
                {
                    "name": "Trans-prenyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "all trans-polyprenyl-diphosphate synthase PDSS1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "all trans-polyprenyl-diphosphate synthase PDSS1",
                    "type": "synonym"
                },
                {
                    "name": "all-trans-decaprenyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "decaprenyl pyrophosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "decaprenyl pyrophosphate synthetase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "decaprenyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "solanesyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "subunit 1 of solanesyl diphosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "trans-prenyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdss1",
                    "type": "recommended"
                },
                {
                    "name": "2610203G20Rik",
                    "type": "synonym"
                },
                {
                    "name": "2700031G06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dps1",
                    "type": "synonym"
                },
                {
                    "name": "Pdss1",
                    "type": "synonym"
                },
                {
                    "name": "Sps1",
                    "type": "synonym"
                },
                {
                    "name": "TPT 1",
                    "type": "synonym"
                },
                {
                    "name": "TPT",
                    "type": "synonym"
                },
                {
                    "name": "Tprt",
                    "type": "synonym"
                },
                {
                    "name": "mDLP1",
                    "type": "synonym"
                },
                {
                    "name": "mSPS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q33DR2-1",
            "evidence": [
                {
                    "id": "0070239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T2R2-1",
            "uniprot_ac": "Q5T2R2",
            "uniprot_id": "DPS1_HUMAN",
            "refseq_ac": "NP_001308907",
            "glycoprotein": "no",
            "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 PDSS1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.91",
                    "type": "synonym"
                },
                {
                    "name": "All-trans-decaprenyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Decaprenyl pyrophosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Decaprenyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Solanesyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "TPT 1",
                    "type": "synonym"
                },
                {
                    "name": "Trans-prenyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "all trans-polyprenyl-diphosphate synthase PDSS1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "all trans-polyprenyl-diphosphate synthase PDSS1",
                    "type": "synonym"
                },
                {
                    "name": "all-trans-decaprenyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "decaprenyl pyrophosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "polyprenyl pyrophosphate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "prenyl (decaprenyl) diphosphate synthase, subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "solanesyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "subunit 1 of decaprenyl diphosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "trans-prenyltransferase (TPT)",
                    "type": "synonym"
                },
                {
                    "name": "trans-prenyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDSS1",
                    "type": "recommended"
                },
                {
                    "name": "COQ10D2",
                    "type": "synonym"
                },
                {
                    "name": "COQ1A",
                    "type": "synonym"
                },
                {
                    "name": "COQ1",
                    "type": "synonym"
                },
                {
                    "name": "DPS1",
                    "type": "synonym"
                },
                {
                    "name": "DPS",
                    "type": "synonym"
                },
                {
                    "name": "PDSS1",
                    "type": "synonym"
                },
                {
                    "name": "SPS",
                    "type": "synonym"
                },
                {
                    "name": "TPRT",
                    "type": "synonym"
                },
                {
                    "name": "TPT 1",
                    "type": "synonym"
                },
                {
                    "name": "TPT",
                    "type": "synonym"
                },
                {
                    "name": "hDPS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T2R2-1",
            "evidence": [
                {
                    "id": "614651",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614651"
                },
                {
                    "id": "0070239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18900-1",
            "uniprot_ac": "P18900",
            "uniprot_id": "COQ1_YEAST",
            "refseq_ac": "NP_009557",
            "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": "Hexaprenyl pyrophosphate synthase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "HPS",
                    "type": "synonym"
                },
                {
                    "name": "trans-hexaprenyltranstransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COQ1",
                    "type": "recommended"
                },
                {
                    "name": "COQ1",
                    "type": "synonym"
                },
                {
                    "name": "YBR0109",
                    "type": "synonym"
                }
            ],
            "record_id": "P18900-1",
            "evidence": [
                {
                    "id": "0070239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R6Q9-1",
            "uniprot_ac": "M0R6Q9",
            "uniprot_id": "M0R6Q9_RAT",
            "refseq_ac": "",
            "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 PDSS1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.91",
                    "type": "synonym"
                },
                {
                    "name": "All-trans-decaprenyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Decaprenyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Solanesyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Trans-prenyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdss1",
                    "type": "recommended"
                },
                {
                    "name": "LOC100364990",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R6Q9-1",
            "evidence": [
                {
                    "id": "0070239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V9Z3-1",
            "uniprot_ac": "Q9V9Z3",
            "uniprot_id": "Q9V9Z3_DROME",
            "refseq_ac": "NP_001287619",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "All trans-polyprenyl-diphosphate synthase PDSS1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.91",
                    "type": "synonym"
                },
                {
                    "name": "All-trans-decaprenyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "CG31005-PB",
                    "type": "synonym"
                },
                {
                    "name": "COQ1 subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Decaprenyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Solanesyl-diphosphate synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Trans-prenyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "qless, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "qless-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "qless",
                    "type": "recommended"
                },
                {
                    "name": "CG15565",
                    "type": "synonym"
                },
                {
                    "name": "CG31005",
                    "type": "synonym"
                },
                {
                    "name": "CG3684",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31005",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31005",
                    "type": "synonym"
                },
                {
                    "name": "Qless",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.422",
                    "type": "synonym"
                },
                {
                    "name": "qless",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V9Z3-1",
            "evidence": [
                {
                    "id": "0070239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070239"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070239"
}