{
    "disease_id": "DOID:0111068", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008967", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008967", 
            "name": "Trihydroxycoprostanic acid in bile"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008967", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008967", 
            "name": "Trihydroxycoprostanic acid to cholic acid"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008967", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008967", 
            "name": "CBAS4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008967", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008967", 
            "name": "Alpha-methyl-acyl-CoA racemase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008967", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008967", 
            "name": "bile acid synthesis defect, congenital, 4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008967", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008967", 
            "name": "bile acid synthesis defect, congenital, type 4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008967", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008967", 
            "name": "2-methylacyl-CoA racemase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008967", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008967", 
            "name": "intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008967", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008967", 
            "name": "liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008967", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008967", 
            "name": "cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008967", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008967", 
            "name": "congenital bile acid synthesis defect type 4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008967", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008967", 
            "name": "AMACR deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008967", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008967", 
            "name": "cholestasis, intrahepatic, with defective conversion of"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008967", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008967", 
            "name": "BASD4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008967", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008967", 
            "name": "bile acid synthesis defect, congenital, 4; CBAS4"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111068", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111068", 
            "name": "CBAS4"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111068", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111068", 
            "name": "trihydroxycoprostanic acid in bile"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111068", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111068", 
            "name": "intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111068", 
        "description": "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111068", 
        "name": "congenital bile acid synthesis defect 4"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111068#disease-associations", 
            "id": "0111068", 
            "database": "Alliance of Genome Resources"
        }
    ]
}