{
    "disease_id": "DOID:0060235",
    "recommended_name": {
        "id": "DOID:0060235",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060235",
        "name": "carnitine palmitoyltransferase II deficiency",
        "description": "A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria."
    },
    "synonyms": [
        {
            "id": "DOID:0060235",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060235",
            "name": "late-onset carnitine palmitoyltransferase II deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060235",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060235",
            "name": "infantile carnitine palmitoyltransferase II deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060235",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060235",
            "name": "CPT-II",
            "description": ""
        },
        {
            "id": "DOID:0060235",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060235",
            "name": "lethal neonatal carnitine palmitoyltransferase II deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "carnitine palmitoyl transferase II deficiency, myopathic form",
            "description": "The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)."
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "CPTII, adult-onset form",
            "description": ""
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "CPTII, myopathic form",
            "description": ""
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "Carnitine Palmitoyltransferase 2 deficiency, myopathic, stress-induced",
            "description": ""
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "CARNITINE PALMITOYLTRANSFERASE II deficiency, myopathic, stress-induced",
            "description": ""
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "Carnitine palmitoyl transferase II deficiency, adult-onset form",
            "description": ""
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "CARNITINE PALMITOYLTRANSFERASE II deficiency, late-onset",
            "description": ""
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "Carnitine Palmitoyltransferase 2 deficiency, myopathic",
            "description": ""
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "CPT 2 deficiency, myopathic",
            "description": ""
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "Cpt2 deficiency, late-onset",
            "description": ""
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "CPT2, adult-onset form",
            "description": ""
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "Carnitine Palmitoyltransferase 2 deficiency, adult-onset",
            "description": ""
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "Carnitine palmitoyl transferase deficiency type 2, adult-onset form",
            "description": ""
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "CPT2, myopathic form",
            "description": ""
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "Carnitine palmitoyl transferase deficiency type 2, myopathic form",
            "description": ""
        },
        {
            "id": "MONDO:0010914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010914",
            "name": "carnitine palmitoyl transferase II deficiency, severe infantile form",
            "description": "The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease."
        },
        {
            "id": "MONDO:0010914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010914",
            "name": "Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular",
            "description": ""
        },
        {
            "id": "MONDO:0010914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010914",
            "name": "Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form",
            "description": ""
        },
        {
            "id": "MONDO:0010914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010914",
            "name": "Carnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia",
            "description": ""
        },
        {
            "id": "MONDO:0010914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010914",
            "name": "CPT 2 deficiency, hepatic",
            "description": ""
        },
        {
            "id": "MONDO:0010914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010914",
            "name": "Cpt2 deficiency, infantile",
            "description": ""
        },
        {
            "id": "MONDO:0010914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010914",
            "name": "Carnitine Palmitoyltransferase 2 deficiency, infantile",
            "description": ""
        },
        {
            "id": "MONDO:0010914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010914",
            "name": "CPTII, hepatocardiomuscular form",
            "description": ""
        },
        {
            "id": "MONDO:0010914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010914",
            "name": "CPTII, severe infantile form",
            "description": ""
        },
        {
            "id": "MONDO:0010914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010914",
            "name": "CARNITINE PALMITOYLTRANSFERASE II deficiency, infantile",
            "description": ""
        },
        {
            "id": "MONDO:0010914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010914",
            "name": "Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form",
            "description": ""
        },
        {
            "id": "MONDO:0010914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010914",
            "name": "CPT2, hepatocardiomuscular form",
            "description": ""
        },
        {
            "id": "MONDO:0010914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010914",
            "name": "Carnitine palmitoyl transferase deficiency type 2, severe infantile form",
            "description": ""
        },
        {
            "id": "MONDO:0010914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010914",
            "name": "CPT2, severe infantile form",
            "description": ""
        },
        {
            "id": "MONDO:0012136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "name": "carnitine palmitoyl transferase II deficiency, neonatal form",
            "description": "The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure."
        },
        {
            "id": "MONDO:0012136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "name": "Carnitine palmitoyl transferase II deficiency, lethal systemic form",
            "description": ""
        },
        {
            "id": "MONDO:0012136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "name": "Carnitine Palmitoyltransferase 2 deficiency, antenatal",
            "description": ""
        },
        {
            "id": "MONDO:0012136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "name": "Cpt2 deficiency, lethal neonatal",
            "description": ""
        },
        {
            "id": "MONDO:0012136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "name": "Carnitine Palmitoyltransferase 2 deficiency, lethal neonatal",
            "description": ""
        },
        {
            "id": "MONDO:0012136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "name": "CPTII, neonatal form",
            "description": ""
        },
        {
            "id": "MONDO:0012136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "name": "CPT 2 deficiency, lethal neonatal",
            "description": ""
        },
        {
            "id": "MONDO:0012136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "name": "CARNITINE PALMITOYLTRANSFERASE II deficiency, lethal neonatal",
            "description": ""
        },
        {
            "id": "MONDO:0012136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "name": "Carnitine Palmitoyltransferase 2 deficiency, neonatal",
            "description": ""
        },
        {
            "id": "MONDO:0012136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "name": "Carnitine palmitoyl transferase deficiency type 2, lethal systemic form",
            "description": ""
        },
        {
            "id": "MONDO:0012136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "name": "CPT2, lethal systemic form",
            "description": ""
        },
        {
            "id": "MONDO:0012136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "name": "Carnitine palmitoyl transferase deficiency type 2, neonatal form",
            "description": ""
        },
        {
            "id": "MONDO:0012136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "name": "CPT2, neonatal form",
            "description": ""
        },
        {
            "id": "MONDO:0012136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "name": "CPTII, lethal systemic form",
            "description": ""
        },
        {
            "id": "MIM:255110",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/255110",
            "name": "Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced",
            "description": "Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced"
        },
        {
            "id": "MIM:600649",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600649",
            "name": "Carnitine palmitoyltransferase 2 deficiency, infantile",
            "description": "Carnitine palmitoyltransferase 2 deficiency, infantile"
        },
        {
            "id": "MIM:608836",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608836",
            "name": "Carnitine palmitoyltransferase 2 deficiency, lethal neonatal",
            "description": "Carnitine palmitoyltransferase 2 deficiency, lethal neonatal"
        }
    ]
}