{
    "disease_id": "DOID:0111066",
    "recommended_name": {
        "id": "DOID:0111066",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111066",
        "name": "congenital bile acid synthesis defect 5",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111066",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111066",
            "name": "CBAS5",
            "description": ""
        },
        {
            "id": "MONDO:0014564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014564",
            "name": "congenital bile acid synthesis defect 5",
            "description": "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene."
        },
        {
            "id": "MONDO:0014564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014564",
            "name": "ABCD3 congenital bile acid synthesis defect",
            "description": ""
        },
        {
            "id": "MONDO:0014564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014564",
            "name": "CBAS5",
            "description": ""
        },
        {
            "id": "MONDO:0014564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014564",
            "name": "bile acid synthesis defect, congenital, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014564",
            "name": "congenital bile acid synthesis defect 5",
            "description": ""
        },
        {
            "id": "MONDO:0014564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014564",
            "name": "congenital bile acid synthesis defect caused by mutation in ABCD3",
            "description": ""
        },
        {
            "id": "MONDO:0014564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014564",
            "name": "congenital bile acid synthesis defect type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014564",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014564",
            "name": "bile acid synthesis defect, congenital, 5",
            "description": ""
        },
        {
            "id": "MIM:616278",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616278",
            "name": "Congenital bile acid synthesis defect 5",
            "description": "Congenital bile acid synthesis defect 5"
        }
    ]
}