{
    "disease_id": "DOID:0111585", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008918", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008918", 
            "name": "CACTD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008918", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008918", 
            "name": "Cact deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008918", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008918", 
            "name": "CARNITINE-acylcarnitine translocase deficiency; CACTD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111585", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111585", 
            "name": "CACT deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111585", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111585", 
            "name": "CACTD"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111585", 
        "description": "A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A20 on chromosome 3p21.31.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111585", 
        "name": "carnitine-acylcarnitine translocase deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111585#disease-associations", 
            "id": "0111585", 
            "database": "Alliance of Genome Resources"
        }
    ]
}