{
    "disease_id": "DOID:0111070",
    "recommended_name": {
        "id": "DOID:0111070",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111070",
        "name": "congenital bile acid synthesis defect 3",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111070",
            "name": "CBAS3",
            "description": ""
        },
        {
            "id": "DOID:0111070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111070",
            "name": "oxysterol 7-alpha-hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "congenital bile acid synthesis defect 3",
            "description": "Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease."
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "BASD3",
            "description": ""
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "CBAS3",
            "description": ""
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "CYP7B1 congenital bile acid synthesis defect",
            "description": ""
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "bile acid synthesis defect, congenital, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "congenital bile acid synthesis defect caused by mutation in CYP7B1",
            "description": ""
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "congenital bile acid synthesis defect type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "oxysterol 7-alpha-hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013439",
            "name": "bile acid synthesis defect, congenital, 3",
            "description": ""
        },
        {
            "id": "MIM:613812",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613812",
            "name": "Congenital bile acid synthesis defect 3",
            "description": "Congenital bile acid synthesis defect 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111070"
    ],
    "unlinked_id_list": []
}