{
    "disease_id": "DOID:14365",
    "recommended_name": {
        "id": "DOID:14365",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14365",
        "name": "systemic primary carnitine deficiency disease",
        "description": "An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy."
    },
    "synonyms": [
        {
            "id": "DOID:14365",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14365",
            "name": "deficiency of plasma-membrane carnitine transporter",
            "description": ""
        },
        {
            "id": "DOID:14365",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14365",
            "name": "carnitine transporter deficiency",
            "description": ""
        },
        {
            "id": "DOID:14365",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14365",
            "name": "carnitine uptake defect",
            "description": ""
        },
        {
            "id": "DOID:14365",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14365",
            "name": "primary carnitine deficiency",
            "description": ""
        },
        {
            "id": "DOID:14365",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14365",
            "name": "renal carnitine transport defect",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "systemic primary carnitine deficiency disease",
            "description": "Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma."
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "Carnitine plasma-membrane transporter deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "Carnitine uptake defect",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "Carnitine uptake deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "cud",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "CARNITINE deficiency, systemic primary",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "Carnitine deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "deficiency of plasma-membrane carnitine transporter",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "Carnitine transporter defect",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "carnitine uptake defect",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "systemic Carnitine deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "systemic primary carnitine deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "carnitine transporter deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "SPCD",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "renal carnitine transport defect",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "primary carnitine deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "Carnitine transporter, plasma-Membrane, deficiency of",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "CARNITINE deficiency, systemic primary; CDSP",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "Carnitine deficiency, primary",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine",
            "description": ""
        },
        {
            "id": "MONDO:0008919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008919",
            "name": "CDSP",
            "description": ""
        },
        {
            "id": "MIM:212140",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/212140",
            "name": "Systemic primary carnitine deficiency",
            "description": "Systemic primary carnitine deficiency"
        }
    ]
}