{
    "disease_id": "DOID:0111585",
    "recommended_name": {
        "id": "DOID:0111585",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111585",
        "name": "carnitine-acylcarnitine translocase deficiency",
        "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 the SLC25A20 gene on chromosome 3p21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111585",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111585",
            "name": "CACT deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111585",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111585",
            "name": "CACTD",
            "description": ""
        },
        {
            "id": "MONDO:0008918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008918",
            "name": "carnitine-acylcarnitine translocase deficiency",
            "description": "Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy."
        },
        {
            "id": "MONDO:0008918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008918",
            "name": "CACT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008918",
            "name": "carnitine-acylcarnitine translocase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008918",
            "name": "CACTD",
            "description": ""
        },
        {
            "id": "MIM:212138",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/212138",
            "name": "Carnitine-acylcarnitine translocase deficiency",
            "description": "Carnitine-acylcarnitine translocase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111585"
    ],
    "unlinked_id_list": []
}