{
    "disease_id": "DOID:0111067",
    "recommended_name": {
        "id": "DOID:0111067",
        "resource": "Disease Ontology",
        "url": "http://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": "http://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": []
}