{
    "disease_id": "DOID:0060235",
    "recommended_name": {
        "id": "DOID:0060235",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0060235",
            "name": "late-onset carnitine palmitoyltransferase II deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060235",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060235",
            "name": "infantile carnitine palmitoyltransferase II deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060235",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060235",
            "name": "CPT-II",
            "description": ""
        },
        {
            "id": "DOID:0060235",
            "resource": "Disease Ontology",
            "url": "https://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."
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "CPT II deficiency, myopathic, stress-induced",
            "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": "CPT2, myopathic form",
            "description": ""
        },
        {
            "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 palmitoyl transferase II deficiency, adult-onset form",
            "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": "Carnitine palmitoyl transferase deficiency type 2, myopathic form",
            "description": ""
        },
        {
            "id": "MONDO:0009704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "name": "carnitine palmitoyl transferase II deficiency, 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, 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": "CPT II deficiency, infantile",
            "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": "CPT2, severe infantile form",
            "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 palmitoyl transferase II deficiency, hepatocardiomuscular form",
            "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": "Carnitine palmitoyl transferase deficiency type 2, severe infantile form",
            "description": ""
        },
        {
            "id": "MONDO:0010914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010914",
            "name": "carnitine palmitoyl transferase II deficiency, 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, 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": "CPT II deficiency, lethal neonatal",
            "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": "CPT2, neonatal form",
            "description": ""
        },
        {
            "id": "MONDO:0012136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "name": "CPTII, lethal systemic form",
            "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": "Carnitine palmitoyl transferase II deficiency, lethal systemic form",
            "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": "Carnitine palmitoyl transferase deficiency type 2, neonatal form",
            "description": ""
        },
        {
            "id": "MONDO:0012136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "name": "carnitine palmitoyl transferase II deficiency, neonatal 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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060235"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060235",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060235",
            "categories": []
        },
        {
            "id": "MONDO:0009704",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009704",
            "categories": []
        },
        {
            "id": "MONDO:0010914",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010914",
            "categories": []
        },
        {
            "id": "MONDO:0012136",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012136",
            "categories": []
        },
        {
            "id": "MIM:255110",
            "database": "MIM",
            "url": "https://www.omim.org/entry/255110",
            "categories": []
        },
        {
            "id": "MIM:600649",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600649",
            "categories": []
        },
        {
            "id": "MIM:608836",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608836",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P23786-1",
            "uniprot_ac": "P23786",
            "uniprot_id": "CPT2_HUMAN",
            "refseq_ac": "NP_000089",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carnitine O-palmitoyltransferase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.21",
                    "type": "synonym"
                },
                {
                    "name": "CPT II",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine palmitoyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "carnitine O-palmitoyltransferase 2, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "carnitine O-palmitoyltransferase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "carnitine palmitoyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "testicular secretory protein Li 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPT2",
                    "type": "recommended"
                },
                {
                    "name": "CPT1",
                    "type": "synonym"
                },
                {
                    "name": "CPT2",
                    "type": "synonym"
                },
                {
                    "name": "CPTASE",
                    "type": "synonym"
                },
                {
                    "name": "IIAE4",
                    "type": "synonym"
                }
            ],
            "record_id": "P23786-1",
            "evidence": [
                {
                    "id": "255110",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/255110"
                },
                {
                    "id": "600649",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600649"
                },
                {
                    "id": "608836",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608836"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060235"
}