{
    "disease_id": "DOID:14753",
    "recommended_name": {
        "id": "DOID:14753",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14753",
        "name": "isovaleric acidemia",
        "description": "An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine."
    },
    "synonyms": [
        {
            "id": "DOID:14753",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14753",
            "name": "Isovaleryl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "DOID:14753",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14753",
            "name": "isovaleric acid CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "DOID:14753",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14753",
            "name": "isovaleric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009475",
            "name": "isovaleric acidemia",
            "description": "Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported."
        },
        {
            "id": "MONDO:0009475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009475",
            "name": "isovaleric acidemia; IVA",
            "description": ""
        },
        {
            "id": "MONDO:0009475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009475",
            "name": "isovaleryl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009475",
            "name": "IVD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009475",
            "name": "isovaleric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009475",
            "name": "Isovalericacidemia",
            "description": ""
        },
        {
            "id": "MONDO:0009475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009475",
            "name": "IVA",
            "description": ""
        },
        {
            "id": "MONDO:0009475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009475",
            "name": "isovaleric acid CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009475",
            "name": "isovaleric acidemia",
            "description": ""
        },
        {
            "id": "MONDO:0009475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009475",
            "name": "isovaleric acid Coa dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009475",
            "name": "isovaleryl CoA carboxylase deficiency",
            "description": ""
        },
        {
            "id": "MIM:243500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/243500",
            "name": "Isovaleric acidemia",
            "description": "Isovaleric acidemia"
        }
    ]
}