{
    "disease_id": "DOID:0090129",
    "recommended_name": {
        "id": "DOID:0090129",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0090129",
            "name": "CPT I deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090129",
            "name": "CPT1A deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090129",
            "name": "L-CPT1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090129",
            "name": "carnitine palmitoyl transferase 1A deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090129",
            "name": "carnitine palmitoyl transferase IA deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090129",
            "name": "hepatic CPT deficiency type I",
            "description": ""
        },
        {
            "id": "DOID:0090129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090129",
            "name": "hepatic carnitine palmitoyl transferase 1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090129",
            "resource": "Disease Ontology",
            "url": "https://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": "CPT1A deficiency",
            "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": "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": "L-CPT1 deficiency",
            "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": "carnitine palmitoyl transferase 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": "carnitine palmitoyltransferase I deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "name": "cpt deficiency, hepatic, type IA",
            "description": ""
        },
        {
            "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": "hepatic carnitine palmitoyl transferase 1 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": "Carnitine palmitoyl transferase 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": "L-CPT 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": "hepatic carnitine palmitoyltransferase 1 deficiency",
            "description": ""
        },
        {
            "id": "MIM:255120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/255120",
            "name": "Carnitine palmitoyltransferase 1A deficiency",
            "description": "Carnitine palmitoyltransferase 1A deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090129"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090129",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090129",
            "categories": []
        },
        {
            "id": "MONDO:0009705",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009705",
            "categories": []
        },
        {
            "id": "MIM:255120",
            "database": "MIM",
            "url": "https://www.omim.org/entry/255120",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N9G1-1",
            "uniprot_ac": "A0A8M1N9G1",
            "uniprot_id": "A0A8M1N9G1_DANRE",
            "refseq_ac": "NP_001038319",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "carnitine O-palmitoyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.21",
                    "type": "synonym"
                },
                {
                    "name": "carnitine palmitoyltransferase 1A (liver)",
                    "type": "synonym"
                },
                {
                    "name": "carnitine palmitoyltransferase 1Aa (liver)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cpt1aa",
                    "type": "recommended"
                },
                {
                    "name": "cpt1aa",
                    "type": "synonym"
                },
                {
                    "name": "cpt1a",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-56p7.8",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N9G1-1",
            "evidence": [
                {
                    "id": "0090129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PEG9-1",
            "uniprot_ac": "A0A8M9PEG9",
            "uniprot_id": "A0A8M9PEG9_DANRE",
            "refseq_ac": "XP_021329547",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "carnitine O-palmitoyltransferase",
                    "type": "recommended"
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                {
                    "name": "2.3.1.21",
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                },
                {
                    "name": "carnitine O-palmitoyltransferase 1, liver isoform isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cpt1ab",
                    "type": "recommended"
                },
                {
                    "name": "cpt1ab",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PEG9-1",
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                {
                    "id": "0090129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97742-1",
            "uniprot_ac": "P97742",
            "uniprot_id": "CPT1A_MOUSE",
            "refseq_ac": "NP_038523",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carnitine O-palmitoyltransferase 1, liver isoform",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.21",
                    "type": "synonym"
                },
                {
                    "name": "CPT I",
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                },
                {
                    "name": "CPT1-L",
                    "type": "synonym"
                },
                {
                    "name": "CPTI-L",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine O-palmitoyltransferase I, liver isoform",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine palmitoyltransferase 1A",
                    "type": "synonym"
                },
                {
                    "name": "L-CPT I",
                    "type": "synonym"
                },
                {
                    "name": "Succinyltransferase CPT1A",
                    "type": "synonym"
                },
                {
                    "name": "carnitine O-palmitoyltransferase 1, liver isoform",
                    "type": "synonym"
                },
                {
                    "name": "carnitine palmitoyltransferase 1, liver",
                    "type": "synonym"
                },
                {
                    "name": "succinyltransferase CPT1A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cpt1a",
                    "type": "recommended"
                },
                {
                    "name": "C730027G07",
                    "type": "synonym"
                },
                {
                    "name": "CPTI",
                    "type": "synonym"
                },
                {
                    "name": "Cpt-1",
                    "type": "synonym"
                },
                {
                    "name": "Cpt1a",
                    "type": "synonym"
                },
                {
                    "name": "Cpt1",
                    "type": "synonym"
                }
            ],
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                    "id": "0090129",
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            ]
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        {
            "uniprot_canonical_ac": "P50416-1",
            "uniprot_ac": "P50416",
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            "refseq_ac": "NP_001027017",
            "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 1, liver isoform",
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                },
                {
                    "name": "CPT1-L",
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                },
                {
                    "name": "CPTI-L",
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                {
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                    "type": "synonym"
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                {
                    "name": "Succinyltransferase CPT1A",
                    "type": "synonym"
                },
                {
                    "name": "carnitine O-palmitoyltransferase 1, liver isoform isoform 2",
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                },
                {
                    "name": "carnitine palmitoyltransferase 1A (liver)",
                    "type": "synonym"
                },
                {
                    "name": "carnitine palmitoyltransferase I, liver",
                    "type": "synonym"
                },
                {
                    "name": "succinyltransferase CPT1A",
                    "type": "synonym"
                }
            ],
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                    "name": "CPT1A",
                    "type": "recommended"
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                    "name": "CPT I",
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                },
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                    "name": "CPT1-L",
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                },
                {
                    "name": "CPT1A",
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                },
                {
                    "name": "CPT1",
                    "type": "synonym"
                },
                {
                    "name": "CPTI-L",
                    "type": "synonym"
                },
                {
                    "name": "L-CPT1",
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                }
            ],
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                {
                    "id": "255120",
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                },
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                    "id": "0090129",
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            ]
        },
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            "uniprot_canonical_ac": "P32198-1",
            "uniprot_ac": "P32198",
            "uniprot_id": "CPT1A_RAT",
            "refseq_ac": "NP_113747",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
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                    "name": "Carnitine O-palmitoyltransferase 1, liver isoform",
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                },
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                    "name": "CPT I",
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                {
                    "name": "CPT1-L",
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                {
                    "name": "CPTI-L",
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                },
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                    "name": "Carnitine O-palmitoyltransferase I, liver isoform",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine palmitoyltransferase 1A",
                    "type": "synonym"
                },
                {
                    "name": "Succinyltransferase CPT1A",
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                {
                    "name": "carnitine O-palmitoyltransferase 1, liver isoform",
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                {
                    "name": "carnitine palmitoyltransferase 1, liver",
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                },
                {
                    "name": "carnitine palmitoyltransferase 1a, liver",
                    "type": "synonym"
                },
                {
                    "name": "succinyltransferase CPT1A",
                    "type": "synonym"
                }
            ],
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                    "name": "Cpt1a",
                    "type": "recommended"
                },
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                    "name": "CPT-Ia",
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                },
                {
                    "name": "Cpt-1",
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                },
                {
                    "name": "Cpt1a",
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                    "name": "Cpt1",
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                }
            ],
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                    "id": "0090129",
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                }
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            "uniprot_canonical_ac": "Q03484-1",
            "uniprot_ac": "Q03484",
            "uniprot_id": "CEBPD_RAT",
            "refseq_ac": "NP_037286",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "CCAAT/enhancer-binding protein delta",
                    "type": "recommended"
                },
                {
                    "name": "C/EBP delta",
                    "type": "synonym"
                },
                {
                    "name": "C/EBP-delta",
                    "type": "synonym"
                },
                {
                    "name": "C/EBPdelta",
                    "type": "synonym"
                },
                {
                    "name": "CCAAT/enhancer binding protein (C/EBP), delta",
                    "type": "synonym"
                },
                {
                    "name": "CCAAT/enhancer-binding protein delta",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor CELF",
                    "type": "synonym"
                },
                {
                    "name": "c/EBP delta",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor CELF",
                    "type": "synonym"
                }
            ],
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                    "name": "Cebpd",
                    "type": "recommended"
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                {
                    "name": "C/EBPd",
                    "type": "synonym"
                },
                {
                    "name": "CELF",
                    "type": "synonym"
                },
                {
                    "name": "Cebpd",
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                },
                {
                    "name": "Celf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03484-1",
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                    "id": "0090129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53673-1",
            "uniprot_ac": "P53673",
            "uniprot_id": "CRBA4_HUMAN",
            "refseq_ac": "NP_001877",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin A4",
                    "type": "recommended"
                },
                {
                    "name": "Beta-A4 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta crystallin A4 chain transcript PS",
                    "type": "synonym"
                },
                {
                    "name": "beta crystallin alpha 4 chain",
                    "type": "synonym"
                },
                {
                    "name": "beta-A4 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin A4",
                    "type": "synonym"
                },
                {
                    "name": "crystallin, beta polypeptide A4",
                    "type": "synonym"
                },
                {
                    "name": "eye lens structural protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRYBA4",
                    "type": "recommended"
                },
                {
                    "name": "CRYBA4",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT23",
                    "type": "synonym"
                },
                {
                    "name": "CYRBA4",
                    "type": "synonym"
                },
                {
                    "name": "MCOPCT4",
                    "type": "synonym"
                }
            ],
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                    "id": "0090129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090129"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090129"
}