{
    "disease_id": "DOID:0111071",
    "recommended_name": {
        "id": "DOID:0111071",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111071",
        "name": "congenital bile acid synthesis defect 1",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111071",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111071",
            "name": "CBAS1",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "congenital bile acid synthesis defect 1",
            "description": "Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption."
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "BASD1",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "CBAS1",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "HSD3B7 congenital bile acid synthesis defect",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "bile acid synthesis defect, congenital, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "congenital bile acid synthesis defect 1",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "congenital bile acid synthesis defect caused by mutation in HSD3B7",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "congenital bile acid synthesis defect type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "bile acid synthesis defect, congenital, 1",
            "description": ""
        },
        {
            "id": "MONDO:0011906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011906",
            "name": "congenital bile acid synthesis defect, type 1",
            "description": ""
        },
        {
            "id": "MIM:607765",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607765",
            "name": "Congenital bile acid synthesis defect 1",
            "description": "Congenital bile acid synthesis defect 1"
        }
    ]
}