{
    "disease_id": "DOID:0070619",
    "recommended_name": {
        "id": "DOID:0070619",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070619",
        "name": "mitochondrial trifunctional protein deficiency 1",
        "description": "A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.The mutation affects enzyme activity due to a deficiency in all three catalytic activities of the mitochondrial trifunctional protein."
    },
    "synonyms": [
        {
            "id": "DOID:0070619",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070619",
            "name": "MTPD1",
            "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_list": [
        "DOID:0070619"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070619",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070619",
            "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": "Q8BMS1-1",
            "uniprot_ac": "Q8BMS1",
            "uniprot_id": "ECHA_MOUSE",
            "refseq_ac": "NP_849209",
            "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 alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "MLCL AT",
                    "type": "synonym"
                },
                {
                    "name": "Monolysocardiolipin acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "TP-alpha",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "monolysocardiolipin acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "trifunctional enzyme subunit alpha, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "trifunctional enzyme subunit alpha, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hadha",
                    "type": "recommended"
                },
                {
                    "name": "Hadha",
                    "type": "synonym"
                },
                {
                    "name": "MLCL AT",
                    "type": "synonym"
                },
                {
                    "name": "Mtpa",
                    "type": "synonym"
                },
                {
                    "name": "TP-alpha",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BMS1-1",
            "evidence": [
                {
                    "id": "0070619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070619"
                }
            ]
        },
        {
            "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"
                },
                {
                    "id": "0070619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070619"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64428-1",
            "uniprot_ac": "Q64428",
            "uniprot_id": "ECHA_RAT",
            "refseq_ac": "NP_570839",
            "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 alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "MLCL AT",
                    "type": "synonym"
                },
                {
                    "name": "Monolysocardiolipin acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "TP-alpha",
                    "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": "monolysocardiolipin acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "trifunctional enzyme subunit alpha, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "trifunctional enzyme subunit alpha, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hadha",
                    "type": "recommended"
                },
                {
                    "name": "Hadha",
                    "type": "synonym"
                },
                {
                    "name": "MLCL AT",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560655",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64428-1",
            "evidence": [
                {
                    "id": "0070619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070619"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V397-1",
            "uniprot_ac": "Q9V397",
            "uniprot_id": "Q9V397_DROME",
            "refseq_ac": "NP_609299",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trifunctional enzyme subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.211",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.17",
                    "type": "synonym"
                },
                {
                    "name": "CG4389-PA",
                    "type": "synonym"
                },
                {
                    "name": "Monolysocardiolipin acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Mtpalpha-PA",
                    "type": "synonym"
                },
                {
                    "name": "TP-alpha",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial trifunctional protein alpha subunit, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtpalpha",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH12558",
                    "type": "synonym"
                },
                {
                    "name": "CG 4389",
                    "type": "synonym"
                },
                {
                    "name": "CG4389",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4389",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4389",
                    "type": "synonym"
                },
                {
                    "name": "HADHA",
                    "type": "synonym"
                },
                {
                    "name": "Hadha",
                    "type": "synonym"
                },
                {
                    "name": "LBP",
                    "type": "synonym"
                },
                {
                    "name": "Mtp alpha",
                    "type": "synonym"
                },
                {
                    "name": "Mtpalpha",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V397-1",
            "evidence": [
                {
                    "id": "0070619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070619"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070619"
}