{
    "disease_id": "DOID:0112138",
    "recommended_name": {
        "id": "DOID:0112138",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112138",
        "name": "primary coenzyme Q10 deficiency 9",
        "description": "A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31."
    },
    "synonyms": [
        {
            "id": "DOID:0112138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112138",
            "name": "COQ10D9",
            "description": ""
        },
        {
            "id": "MONDO:0033615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033615",
            "name": "coenzyme q10 deficiency, primary, 9",
            "description": ""
        },
        {
            "id": "MONDO:0033615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033615",
            "name": "COQ10D9",
            "description": ""
        },
        {
            "id": "MIM:619028",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619028",
            "name": "Coenzyme Q10 deficiency, primary, 9",
            "description": "Coenzyme Q10 deficiency, primary, 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112138"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112138",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112138",
            "categories": []
        },
        {
            "id": "MONDO:0033615",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033615",
            "categories": []
        },
        {
            "id": "MIM:619028",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619028",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q66L51-1",
            "uniprot_ac": "Q66L51",
            "uniprot_id": "COQ5_DANRE",
            "refseq_ac": "NP_001004541",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.201",
                    "type": "synonym"
                },
                {
                    "name": "DKEYP-7C9.2",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinone biosynthesis methyltransferase COQ5",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q5 homolog, methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis methyltransferase COQ5, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "coq5",
                    "type": "recommended"
                },
                {
                    "name": "coq5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92445",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66L51-1",
            "evidence": [
                {
                    "id": "0112138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CXI0-1",
            "uniprot_ac": "Q9CXI0",
            "uniprot_id": "COQ5_MOUSE",
            "refseq_ac": "NP_080780",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.201",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinone biosynthesis methyltransferase COQ5",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q5 homolog, methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis methyltransferase COQ5, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq5",
                    "type": "recommended"
                },
                {
                    "name": "1810014G04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Coq5",
                    "type": "synonym"
                },
                {
                    "name": "D5Ertd33e",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CXI0-1",
            "evidence": [
                {
                    "id": "0112138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5HYK3-1",
            "uniprot_ac": "Q5HYK3",
            "uniprot_id": "COQ5_HUMAN",
            "refseq_ac": "NP_115690",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.201",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinone biosynthesis methyltransferase COQ5",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q5 homolog, methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis methyltransferase COQ5, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COQ5",
                    "type": "recommended"
                },
                {
                    "name": "COQ10D9",
                    "type": "synonym"
                },
                {
                    "name": "COQ5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5HYK3-1",
            "evidence": [
                {
                    "id": "619028",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619028"
                },
                {
                    "id": "0112138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49017-1",
            "uniprot_ac": "P49017",
            "uniprot_id": "COQ5_YEAST",
            "refseq_ac": "NP_013597",
            "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": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2-hexaprenyl-6-methoxy-1,4-benzoquinol methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "2-hexaprenyl-6-methoxy-1,4-benzoquinone methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.201",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinone biosynthesis methyltransferase COQ5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COQ5",
                    "type": "recommended"
                },
                {
                    "name": "COQ5",
                    "type": "synonym"
                },
                {
                    "name": "DBI56",
                    "type": "synonym"
                },
                {
                    "name": "YM8339.09C",
                    "type": "synonym"
                }
            ],
            "record_id": "P49017-1",
            "evidence": [
                {
                    "id": "0112138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4G064-1",
            "uniprot_ac": "Q4G064",
            "uniprot_id": "COQ5_RAT",
            "refseq_ac": "NP_001034111",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.201",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinone biosynthesis methyltransferase COQ5",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q5 homolog, methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis methyltransferase COQ5, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq5",
                    "type": "recommended"
                },
                {
                    "name": "Coq5",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310857",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4G064-1",
            "evidence": [
                {
                    "id": "0112138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYF8-1",
            "uniprot_ac": "Q9VYF8",
            "uniprot_id": "COQ5_DROME",
            "refseq_ac": "NP_001285193",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.201",
                    "type": "synonym"
                },
                {
                    "name": "CG2453-PB",
                    "type": "synonym"
                },
                {
                    "name": "Coq5-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinone biosynthesis methyltransferase COQ5",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q5, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq5",
                    "type": "recommended"
                },
                {
                    "name": "CG2453",
                    "type": "synonym"
                },
                {
                    "name": "Coq5",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2453",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2453",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYF8-1",
            "evidence": [
                {
                    "id": "0112138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112138"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112138"
}