{
    "disease_id": "DOID:0111067", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015015", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015015", 
            "name": "CBAS6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015015", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015015", 
            "name": "bile acid synthesis defect, congenital, 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015015", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015015", 
            "name": "congenital bile acid synthesis defect type 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015015", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015015", 
            "name": "ACOX2 congenital bile acid synthesis defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015015", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015015", 
            "name": "bile acid synthesis defect, congenital, 6; CBAS6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015015", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015015", 
            "name": "congenital bile acid synthesis defect caused by mutation in ACOX2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015015", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015015", 
            "name": "bile acid synthesis defect, congenital, type 6"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111067", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111067", 
            "name": "CBAS6"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111067", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111067", 
        "name": "congenital bile acid synthesis defect 6"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/617308", 
            "id": "617308", 
            "database": "MIM"
        }
    ]
}