{
    "disease_id": "DOID:4810", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008948", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008948", 
            "name": "CTx"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008948", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008948", 
            "name": "sterol 27-hydroxylase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008948", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008948", 
            "name": "cerebral cholesterinosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008948", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008948", 
            "name": "cerebrotendinous xanthomatosis; CTx"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008948", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008948", 
            "name": "cholestanol storage disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:4810", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:4810", 
            "name": "Cholestanol storage disease"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:4810", 
        "description": "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.", 
        "resource": "Disease Ontology", 
        "id": "DOID:4810", 
        "name": "cerebrotendinous xanthomatosis"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/213700", 
            "id": "213700", 
            "database": "MIM"
        }
    ]
}