{
    "disease_id": "DOID:0111277",
    "recommended_name": {
        "id": "DOID:0111277",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111277",
        "name": "mitochondrial trifunctional protein deficiency",
        "description": "A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy."
    },
    "synonyms": [
        {
            "id": "DOID:0111277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111277",
            "name": "MTPD",
            "description": ""
        },
        {
            "id": "DOID:0111277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111277",
            "name": "TFP deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111277",
            "name": "TFPD",
            "description": ""
        },
        {
            "id": "MONDO:0958181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958181",
            "name": "mitochondrial trifunctional protein deficiency 1",
            "description": ""
        },
        {
            "id": "MIM:609015",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609015",
            "name": "Mitochondrial trifunctional protein deficiency 1",
            "description": "Mitochondrial trifunctional protein deficiency 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0060999",
            "label": "mitochondrial trifunctional protein deficiency 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070619",
            "label": "mitochondrial trifunctional protein deficiency 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111277",
        "DOID:0070619",
        "DOID:0060999"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111277",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111277",
            "categories": []
        },
        {
            "id": "MONDO:0958181",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958181",
            "categories": []
        },
        {
            "id": "MIM:609015",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609015",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99JY0-1",
            "uniprot_ac": "Q99JY0",
            "uniprot_id": "ECHB_MOUSE",
            "refseq_ac": "NP_001276727",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trifunctional enzyme subunit beta, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-oxoacyl-CoA thiolase",
                    "type": "synonym"
                },
                {
                    "name": "Acetyl-CoA acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Beta-ketothiolase",
                    "type": "synonym"
                },
                {
                    "name": "LCKAT",
                    "type": "synonym"
                },
                {
                    "name": "Long chain 3-ketoacyl-CoA thiolase",
                    "type": "synonym"
                },
                {
                    "name": "TP-beta",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta aubunit",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "trifunctional enzyme subunit beta, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "trifunctional enzyme subunit beta, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hadhb",
                    "type": "recommended"
                },
                {
                    "name": "4930479F15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hadhb",
                    "type": "synonym"
                },
                {
                    "name": "Mtpb",
                    "type": "synonym"
                },
                {
                    "name": "TP-beta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99JY0-1",
            "evidence": [
                {
                    "id": "0111277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111277"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40939-1",
            "uniprot_ac": "P40939",
            "uniprot_id": "ECHA_HUMAN",
            "refseq_ac": "NP_000173",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trifunctional enzyme subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "3-oxoacyl-CoA thiolase",
                    "type": "synonym"
                },
                {
                    "name": "78 kDa gastrin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "MLCL AT",
                    "type": "synonym"
                },
                {
                    "name": "Monolysocardiolipin acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "TP-alpha",
                    "type": "synonym"
                },
                {
                    "name": "gastrin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "long-chain 2-enoyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "long-chain-3-hydroxyacyl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial trifunctional enzyme, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial trifunctional protein, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "monolysocardiolipin acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "trifunctional enzyme subunit alpha, mitochondrial precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HADHA",
                    "type": "recommended"
                },
                {
                    "name": "ECHA",
                    "type": "synonym"
                },
                {
                    "name": "GBP",
                    "type": "synonym"
                },
                {
                    "name": "HADHA",
                    "type": "synonym"
                },
                {
                    "name": "HADH",
                    "type": "synonym"
                },
                {
                    "name": "LCEH",
                    "type": "synonym"
                },
                {
                    "name": "LCHAD",
                    "type": "synonym"
                },
                {
                    "name": "MLCL AT",
                    "type": "synonym"
                },
                {
                    "name": "MTPA",
                    "type": "synonym"
                },
                {
                    "name": "TP-ALPHA",
                    "type": "synonym"
                }
            ],
            "record_id": "P40939-1",
            "evidence": [
                {
                    "id": "609015",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609015"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60587-1",
            "uniprot_ac": "Q60587",
            "uniprot_id": "ECHB_RAT",
            "refseq_ac": "NP_598302",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trifunctional enzyme subunit beta, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-oxoacyl-CoA thiolase",
                    "type": "synonym"
                },
                {
                    "name": "Acetyl-CoA acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Beta-ketothiolase",
                    "type": "synonym"
                },
                {
                    "name": "LCKAT",
                    "type": "synonym"
                },
                {
                    "name": "Long chain 3-ketoacyl-CoA thiolase",
                    "type": "synonym"
                },
                {
                    "name": "TP-beta",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial trifunctional protein, beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "trifunctional enzyme subunit beta, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "trifunctional enzyme subunit beta, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hadhb",
                    "type": "recommended"
                },
                {
                    "name": "Hadhb",
                    "type": "synonym"
                },
                {
                    "name": "TP-beta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60587-1",
            "evidence": [
                {
                    "id": "0111277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111277"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1H8-1",
            "uniprot_ac": "Q9W1H8",
            "uniprot_id": "Q9W1H8_DROME",
            "refseq_ac": "NP_477378",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "acetyl-CoA C-acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.16",
                    "type": "synonym"
                },
                {
                    "name": "CG4581-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mtpbeta-PA",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial trifunctional protein beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "thiolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtpbeta",
                    "type": "recommended"
                },
                {
                    "name": "ACoT",
                    "type": "synonym"
                },
                {
                    "name": "CG4581",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4581",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4581",
                    "type": "synonym"
                },
                {
                    "name": "MTP",
                    "type": "synonym"
                },
                {
                    "name": "Mtpbeta",
                    "type": "synonym"
                },
                {
                    "name": "Thiolase",
                    "type": "synonym"
                },
                {
                    "name": "dHADHB",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k09828",
                    "type": "synonym"
                },
                {
                    "name": "thiolase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1H8-1",
            "evidence": [
                {
                    "id": "0111277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111277"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55084-1",
            "uniprot_ac": "P55084",
            "uniprot_id": "ECHB_HUMAN",
            "refseq_ac": "NP_001268441",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trifunctional enzyme subunit beta, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2-enoyl-Coenzyme A (CoA) hydratase, beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "3-ketoacyl-Coenzyme A (CoA) thiolase of mitochondrial trifunctional protein, beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "3-oxoacyl-CoA thiolase",
                    "type": "synonym"
                },
                {
                    "name": "Acetyl-CoA acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Beta-ketothiolase",
                    "type": "synonym"
                },
                {
                    "name": "LCKAT",
                    "type": "synonym"
                },
                {
                    "name": "Long chain 3-ketoacyl-CoA thiolase",
                    "type": "synonym"
                },
                {
                    "name": "TP-beta",
                    "type": "synonym"
                },
                {
                    "name": "acetyl-CoA acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "beta-ketothiolase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "trifunctional enzyme subunit beta, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "trifunctional enzyme subunit beta, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HADHB",
                    "type": "recommended"
                },
                {
                    "name": "ECHB",
                    "type": "synonym"
                },
                {
                    "name": "HADHB",
                    "type": "synonym"
                },
                {
                    "name": "MSTP029",
                    "type": "synonym"
                },
                {
                    "name": "MTPB",
                    "type": "synonym"
                },
                {
                    "name": "MTPD2",
                    "type": "synonym"
                },
                {
                    "name": "MTPD",
                    "type": "synonym"
                },
                {
                    "name": "TP-BETA",
                    "type": "synonym"
                }
            ],
            "record_id": "P55084-1",
            "evidence": [
                {
                    "id": "0111277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111277"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111277"
}