{
    "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": []
}