{
    "disease_id": "DOID:0111071", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011906", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011906", 
            "name": "bile acid synthesis defect, congenital, 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011906", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011906", 
            "name": "bile acid synthesis defect, congenital, type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011906", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011906", 
            "name": "congenital bile acid synthesis defect caused by mutation in HSD3B7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011906", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011906", 
            "name": "HSD3B7 congenital bile acid synthesis defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011906", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011906", 
            "name": "congenital bile acid synthesis defect, type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011906", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011906", 
            "name": "congenital bile acid synthesis defect type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011906", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011906", 
            "name": "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011906", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011906", 
            "name": "CBAS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011906", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011906", 
            "name": "BASD1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011906", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011906", 
            "name": "bile acid synthesis defect, congenital, 1; CBAS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011906", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011906", 
            "name": "3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111071", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111071", 
            "name": "CBAS1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111071", 
        "description": "A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111071", 
        "name": "congenital bile acid synthesis defect 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111071#disease-associations", 
            "id": "0111071", 
            "database": "Alliance of Genome Resources"
        }
    ]
}