{
    "disease_id": "DOID:0090129",
    "recommended_name": {
        "id": "DOID:0090129",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090129",
        "name": "carnitine palmitoyltransferase I deficiency",
        "description": "A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0090129",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090129",
            "name": "CPT I deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090129",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090129",
            "name": "CPT1A deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090129",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090129",
            "name": "L-CPT1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090129",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090129",
            "name": "carnitine palmitoyl transferase 1A deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090129",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090129",
            "name": "carnitine palmitoyl transferase IA deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090129",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090129",
            "name": "hepatic CPT deficiency type I",
            "description": ""
        },
        {
            "id": "DOID:0090129",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090129",
            "name": "hepatic carnitine palmitoyl transferase 1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090129",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090129",
            "name": "hepatic carnitine palmitoyl transferase I deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "carnitine palmitoyl transferase 1A deficiency",
            "description": "Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure."
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "L-CPTI deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "hepatic carnitine palmitoyl transferase I deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "CPT deficiency, hepatic, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "L-CPT 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "Carnitine palmitoyltransferase 1A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "carnitine palmitoyl transferase IA deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "CPT I deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "hepatic carnitine palmitoyltransferase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "Carnitine palmitoyl transferase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "Carnitine palmitoyl transferase IA deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "L-CPT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "CPT1A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "hepatic carnitine palmitoyl transferase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "CPT 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "Carnitine Palmitoyltransferase 1A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "Carnitine Palmitoyltransferase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "hepatic CPT1",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "CPT1A disorder of carnitine cycle and carnitine transport",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "hepatic CPT deficiency type I",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "carnitine palmitoyl transferase 1A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "carnitine palmitoyltransferase I deficiency",
            "description": ""
        },
        {
            "id": "MIM:255120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/255120",
            "name": "Carnitine palmitoyltransferase 1A deficiency",
            "description": "Carnitine palmitoyltransferase 1A deficiency"
        }
    ]
}