{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013439", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013439", 
            "name": "bile acid synthesis defect, congenital, 3; CBAS3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013439", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013439", 
            "name": "oxysterol 7-alpha-hydroxylase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013439", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013439", 
            "name": "congenital bile acid synthesis defect caused by mutation in CYP7B1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013439", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013439", 
            "name": "congenital bile acid synthesis defect type 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013439", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013439", 
            "name": "bile acid synthesis defect, congenital, type 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013439", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013439", 
            "name": "BASD3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013439", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013439", 
            "name": "bile acid synthesis defect, congenital, 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013439", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013439", 
            "name": "CYP7B1 congenital bile acid synthesis defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013439", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013439", 
            "name": "CBAS3"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111070", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111070", 
            "name": "CBAS3"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111070", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111070", 
            "name": "oxysterol 7-alpha-hydroxylase deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111070", 
        "description": "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111070", 
        "name": "congenital bile acid synthesis defect 3"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/613812", 
            "id": "613812", 
            "database": "MIM"
        }
    ]
}