{
    "disease_id": "DOID:0081326",
    "recommended_name": {
        "id": "DOID:0081326",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0081326",
            "name": "Oxoglutaric aciduria",
            "description": ""
        },
        {
            "id": "DOID:0081326",
            "resource": "Disease Ontology",
            "url": "http://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": "Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases."
        },
        {
            "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": "2-ketoglutarate dehydrogenase deficiency",
            "description": ""
        },
        {
            "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": "Alpha KGD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008759",
            "name": "Alpha-Kgd deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008759",
            "name": "Oxoglutaric aciduria",
            "description": ""
        }
    ]
}