{
    "disease_id": "DOID:0061186",
    "recommended_name": {
        "id": "DOID:0061186",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061186",
        "name": "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",
        "description": "A lipid metabolism disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death that has_material_basis_in homozygous or compound heterozygous mutations in the gene encoding long-chain hydroxyacyl-CoA dehydrogenase. The effect of the mutation on enzyme activity results solely from a deficiency in long-chain 3-hydroxyacyl-CoA dehydrogenase."
    },
    "synonyms": [
        {
            "id": "MONDO:0012173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012173",
            "name": "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",
            "description": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy."
        },
        {
            "id": "MONDO:0012173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012173",
            "name": "HELLP syndrome, maternal, of pregnancy",
            "description": ""
        },
        {
            "id": "MONDO:0012173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012173",
            "name": "LCHAD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012173",
            "name": "LCHADD",
            "description": ""
        },
        {
            "id": "MONDO:0012173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012173",
            "name": "fatty liver, acute, of pregnancy",
            "description": ""
        },
        {
            "id": "MONDO:0012173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012173",
            "name": "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012173",
            "name": "long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012173",
            "name": "3-hydroxyacyl-CoA dehydrogenase long chain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012173",
            "name": "long-chain 3-OH acyl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012173",
            "name": "long-chain 3-hydroxy acyl CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012173",
            "name": "trifunctional protein deficiency type 1",
            "description": ""
        },
        {
            "id": "MIM:609016",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609016",
            "name": "Long-chain 3-hydroxyl-CoA dehydrogenase deficiency",
            "description": "Long-chain 3-hydroxyl-CoA dehydrogenase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061186"
    ],
    "unlinked_id_list": []
}