{
    "disease_id": "DOID:0081326",
    "recommended_name": {
        "id": "DOID:0081326",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081326",
        "name": "oxoglutarate dehydrogenase deficiency",
        "description": "An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13."
    },
    "synonyms": [
        {
            "id": "DOID:0081326",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081326",
            "name": "Oxoglutaric aciduria",
            "description": ""
        },
        {
            "id": "DOID:0081326",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081326",
            "name": "alpha-ketoglutarate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008759",
            "name": "oxoglutaricaciduria",
            "description": "A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures."
        },
        {
            "id": "MONDO:0008759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008759",
            "name": "Alpha-ketoglutarate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008759",
            "name": "oxoglutarate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008759",
            "name": "2 alpha ketoglutarate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008759",
            "name": "Alpha KGD deficiency",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081326"
    ],
    "unlinked_id_list": []
}