{
    "disease_id": "DOID:0111585",
    "recommended_name": {
        "id": "DOID:0111585",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111585",
        "name": "carnitine-acylcarnitine translocase deficiency",
        "description": "A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111585",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111585",
            "name": "CACT deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111585",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111585",
            "name": "CACTD",
            "description": ""
        },
        {
            "id": "MONDO:0008918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008918",
            "name": "carnitine-acylcarnitine translocase deficiency",
            "description": "Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy."
        },
        {
            "id": "MONDO:0008918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008918",
            "name": "CACT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008918",
            "name": "carnitine-acylcarnitine translocase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008918",
            "name": "CACTD",
            "description": ""
        },
        {
            "id": "MIM:212138",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/212138",
            "name": "Carnitine-acylcarnitine translocase deficiency",
            "description": "Carnitine-acylcarnitine translocase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111585"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111585",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111585",
            "categories": []
        },
        {
            "id": "MONDO:0008918",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008918",
            "categories": []
        },
        {
            "id": "MIM:212138",
            "database": "MIM",
            "url": "https://www.omim.org/entry/212138",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z2Z6-1",
            "uniprot_ac": "Q9Z2Z6",
            "uniprot_id": "MCAT_MOUSE",
            "refseq_ac": "NP_065266",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial carnitine/acylcarnitine carrier protein",
                    "type": "recommended"
                },
                {
                    "name": "CACT",
                    "type": "synonym"
                },
                {
                    "name": "CAC",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine/acylcarnitine translocase",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 20",
                    "type": "synonym"
                },
                {
                    "name": "mCAC",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial carnitine/acylcarnitine carrier protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a20",
                    "type": "recommended"
                },
                {
                    "name": "1110007P09Rik",
                    "type": "synonym"
                },
                {
                    "name": "CAC",
                    "type": "synonym"
                },
                {
                    "name": "Cact",
                    "type": "synonym"
                },
                {
                    "name": "Cac",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a20",
                    "type": "synonym"
                },
                {
                    "name": "mCAC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2Z6-1",
            "evidence": [
                {
                    "id": "0111585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43772-1",
            "uniprot_ac": "O43772",
            "uniprot_id": "MCAT_HUMAN",
            "refseq_ac": "NP_000378",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial carnitine/acylcarnitine carrier protein",
                    "type": "recommended"
                },
                {
                    "name": "CACT",
                    "type": "synonym"
                },
                {
                    "name": "CAC",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine/acylcarnitine translocase",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 20",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial carnitine/acylcarnitine carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (carnitine/acylcarnitine translocase), member 20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC25A20",
                    "type": "recommended"
                },
                {
                    "name": "CACT",
                    "type": "synonym"
                },
                {
                    "name": "CAC",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A20",
                    "type": "synonym"
                }
            ],
            "record_id": "O43772-1",
            "evidence": [
                {
                    "id": "212138",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/212138"
                },
                {
                    "id": "0111585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12289-1",
            "uniprot_ac": "Q12289",
            "uniprot_id": "CRC1_YEAST",
            "refseq_ac": "NP_014743",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial carnitine carrier",
                    "type": "recommended"
                },
                {
                    "name": "carnitine:acyl carnitine antiporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRC1",
                    "type": "recommended"
                },
                {
                    "name": "CRC1",
                    "type": "synonym"
                },
                {
                    "name": "YOR3193C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12289-1",
            "evidence": [
                {
                    "id": "0111585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97521-1",
            "uniprot_ac": "P97521",
            "uniprot_id": "MCAT_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial carnitine/acylcarnitine carrier protein",
                    "type": "recommended"
                },
                {
                    "name": "CACT",
                    "type": "synonym"
                },
                {
                    "name": "CAC",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine/acylcarnitine translocase",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a20",
                    "type": "recommended"
                },
                {
                    "name": "Cact",
                    "type": "synonym"
                }
            ],
            "record_id": "P97521-1",
            "evidence": [
                {
                    "id": "0111585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQG4-1",
            "uniprot_ac": "Q9VQG4",
            "uniprot_id": "COLT_DROME",
            "refseq_ac": "NP_477221",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Congested-like trachea protein",
                    "type": "recommended"
                },
                {
                    "name": "CG3057-PA",
                    "type": "synonym"
                },
                {
                    "name": "carnitine Acyl-Carnitine translocase",
                    "type": "synonym"
                },
                {
                    "name": "collapsed trachea",
                    "type": "synonym"
                },
                {
                    "name": "colt-PA",
                    "type": "synonym"
                },
                {
                    "name": "congested-like trachea, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "colt",
                    "type": "recommended"
                },
                {
                    "name": "CACT",
                    "type": "synonym"
                },
                {
                    "name": "CG3057",
                    "type": "synonym"
                },
                {
                    "name": "Colt",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3057",
                    "type": "synonym"
                },
                {
                    "name": "colt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQG4-1",
            "evidence": [
                {
                    "id": "0111585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VM51-1",
            "uniprot_ac": "Q9VM51",
            "uniprot_id": "MME1_DROME",
            "refseq_ac": "NP_609093",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial magnesium exporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CG3476-PA",
                    "type": "synonym"
                },
                {
                    "name": "MME1-PA",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial magnesium exporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MME1",
                    "type": "recommended"
                },
                {
                    "name": "CG3476",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3476",
                    "type": "synonym"
                },
                {
                    "name": "MME1",
                    "type": "synonym"
                },
                {
                    "name": "dMme1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VM51-1",
            "evidence": [
                {
                    "id": "0111585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111585"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111585"
}