{
    "disease_id": "DOID:0111067",
    "recommended_name": {
        "id": "DOID:0111067",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111067",
        "name": "congenital bile acid synthesis defect 6",
        "description": "A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14."
    },
    "synonyms": [
        {
            "id": "DOID:0111067",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111067",
            "name": "CBAS6",
            "description": ""
        },
        {
            "id": "MONDO:0015015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015015",
            "name": "congenital bile acid synthesis defect 6",
            "description": "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene."
        },
        {
            "id": "MONDO:0015015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015015",
            "name": "ACOX2 congenital bile acid synthesis defect",
            "description": ""
        },
        {
            "id": "MONDO:0015015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015015",
            "name": "CBAS6",
            "description": ""
        },
        {
            "id": "MONDO:0015015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015015",
            "name": "bile acid synthesis defect, congenital, 6",
            "description": ""
        },
        {
            "id": "MONDO:0015015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015015",
            "name": "bile acid synthesis defect, congenital, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0015015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015015",
            "name": "congenital bile acid synthesis defect caused by mutation in ACOX2",
            "description": ""
        },
        {
            "id": "MONDO:0015015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015015",
            "name": "congenital bile acid synthesis defect type 6",
            "description": ""
        },
        {
            "id": "MIM:617308",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617308",
            "name": "Congenital bile acid synthesis defect 6",
            "description": "Congenital bile acid synthesis defect 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111067"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111067",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111067",
            "categories": []
        },
        {
            "id": "MONDO:0015015",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015015",
            "categories": []
        },
        {
            "id": "MIM:617308",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617308",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QXD1-1",
            "uniprot_ac": "Q9QXD1",
            "uniprot_id": "ACOX2_MOUSE",
            "refseq_ac": "NP_001155139",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal acyl-coenzyme A oxidase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.3.3.6",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha,7-alpha, 12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha,7-alpha, 12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain acyl-CoA oxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "THCA-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "THCCox",
                    "type": "synonym"
                },
                {
                    "name": "Trihydroxycoprostanoyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "branched chain acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal acyl-coenzyme A oxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "trihydroxycoprostanoyl-CoA oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acox2",
                    "type": "recommended"
                },
                {
                    "name": "Acox2",
                    "type": "synonym"
                },
                {
                    "name": "THCCox",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QXD1-1",
            "evidence": [
                {
                    "id": "0111067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99424-1",
            "uniprot_ac": "Q99424",
            "uniprot_id": "ACOX2_HUMAN",
            "refseq_ac": "NP_003491",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal acyl-coenzyme A oxidase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.3.3.6",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha,7-alpha, 12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha,7-alpha, 12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain acyl-CoA oxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "THCA-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "THCCox",
                    "type": "synonym"
                },
                {
                    "name": "Trihydroxycoprostanoyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA oxidase 2, branched chain",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A oxidase 2, branched chain",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal acyl-coenzyme A oxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal branched chain acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "trihydroxycoprostanoyl-CoA oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACOX2",
                    "type": "recommended"
                },
                {
                    "name": "ACOX2",
                    "type": "synonym"
                },
                {
                    "name": "BCOX",
                    "type": "synonym"
                },
                {
                    "name": "BRCACOX",
                    "type": "synonym"
                },
                {
                    "name": "BRCOX",
                    "type": "synonym"
                },
                {
                    "name": "CBAS6",
                    "type": "synonym"
                },
                {
                    "name": "THCCox",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99424-1",
            "evidence": [
                {
                    "id": "617308",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617308"
                },
                {
                    "id": "0111067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13711-1",
            "uniprot_ac": "P13711",
            "uniprot_id": "ACOX_YEAST",
            "refseq_ac": "NP_011310",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-coenzyme A oxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.3.6",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POX1",
                    "type": "recommended"
                },
                {
                    "name": "FOX1",
                    "type": "synonym"
                },
                {
                    "name": "POX1",
                    "type": "synonym"
                }
            ],
            "record_id": "P13711-1",
            "evidence": [
                {
                    "id": "0111067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97562-1",
            "uniprot_ac": "P97562",
            "uniprot_id": "ACOX2_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": "Peroxisomal acyl-coenzyme A oxidase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.3.3.6",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain acyl-CoA oxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "THCA-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "THCCox",
                    "type": "synonym"
                },
                {
                    "name": "Trihydroxycoprostanoyl-CoA oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acox2",
                    "type": "recommended"
                },
                {
                    "name": "Thcox",
                    "type": "synonym"
                }
            ],
            "record_id": "P97562-1",
            "evidence": [
                {
                    "id": "0111067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3U0-1",
            "uniprot_ac": "Q9W3U0",
            "uniprot_id": "Q9W3U0_DROME",
            "refseq_ac": "NP_572371",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-coenzyme A oxidase",
                    "type": "recommended"
                },
                {
                    "name": "CG4586-PA",
                    "type": "synonym"
                },
                {
                    "name": "acyl-coenzyme A oxidase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG4586",
                    "type": "recommended"
                },
                {
                    "name": "CG4586",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4586",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4586",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3U0-1",
            "evidence": [
                {
                    "id": "0111067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2G9-1",
            "uniprot_ac": "Q9W2G9",
            "uniprot_id": "Q9W2G9_DROME",
            "refseq_ac": "NP_001286677",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-coenzyme A oxidase",
                    "type": "recommended"
                },
                {
                    "name": "Acox57D-p-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG9707-PB",
                    "type": "synonym"
                },
                {
                    "name": "acyl co-enzyme A oxidase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A oxidase at 57D proximal, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "acyl-coA oxidase 57D-p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acox57D-p",
                    "type": "recommended"
                },
                {
                    "name": "ACox57D-p",
                    "type": "synonym"
                },
                {
                    "name": "Acox57D-p",
                    "type": "synonym"
                },
                {
                    "name": "Acox57Dp",
                    "type": "synonym"
                },
                {
                    "name": "CG9707",
                    "type": "synonym"
                },
                {
                    "name": "D-acox",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9707",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9707",
                    "type": "synonym"
                },
                {
                    "name": "acox",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2G9-1",
            "evidence": [
                {
                    "id": "0111067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2G8-1",
            "uniprot_ac": "Q9W2G8",
            "uniprot_id": "Q9W2G8_DROME",
            "refseq_ac": "NP_523803",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-coenzyme A oxidase",
                    "type": "recommended"
                },
                {
                    "name": "Acox57D-d-PA",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-coenzyme A oxidase",
                    "type": "synonym"
                },
                {
                    "name": "CG9709-PA",
                    "type": "synonym"
                },
                {
                    "name": "acyl co-enzyme A oxidase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A oxidase at 57D distal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acox57D-d",
                    "type": "recommended"
                },
                {
                    "name": "Acox57D-d",
                    "type": "synonym"
                },
                {
                    "name": "Acox57Dd",
                    "type": "synonym"
                },
                {
                    "name": "CG9709",
                    "type": "synonym"
                },
                {
                    "name": "D-acox",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9709",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9709",
                    "type": "synonym"
                },
                {
                    "name": "acox",
                    "type": "synonym"
                },
                {
                    "name": "aco",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2G8-1",
            "evidence": [
                {
                    "id": "0111067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111067"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111067"
}