{
    "disease_id": "DOID:0111066", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014564", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014564", 
            "name": "ABCD3 congenital bile acid synthesis defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014564", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014564", 
            "name": "congenital bile acid synthesis defect caused by mutation in ABCD3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014564", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014564", 
            "name": "bile acid synthesis defect, congenital, 5; CBAS5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014564", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014564", 
            "name": "CBAS5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014564", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014564", 
            "name": "bile acid synthesis defect, congenital, 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014564", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014564", 
            "name": "bile acid synthesis defect, congenital, type 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014564", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014564", 
            "name": "congenital bile acid synthesis defect type 5"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111066", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111066", 
            "name": "CBAS5"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111066", 
        "description": "A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111066", 
        "name": "congenital bile acid synthesis defect 5"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111066#disease-associations", 
            "id": "0111066", 
            "database": "Alliance of Genome Resources"
        }
    ]
}