{
    "disease_id": "DOID:0080433", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015025", 
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.", 
            "resource": "MONDO", 
            "id": "MONDO:0015025", 
            "name": "epileptic encephalopathy, early infantile, 51"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015025", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015025", 
            "name": "epileptic encephalopathy, early infantile, type 51"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015025", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015025", 
            "name": "EIEE51"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015025", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015025", 
            "name": "epileptic encephalopathy, early infantile, 51; EIEE51"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015025", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015025", 
            "name": "early infantile epileptic encephalopathy caused by mutation in MDH2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015025", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015025", 
            "name": "epileptic encephalopathy, early infantile, 51"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015025", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015025", 
            "name": "MDH2 early infantile epileptic encephalopathy"
        }, 
        {
            "url": "https://www.omim.org/entry/617339", 
            "description": "Epileptic encephalopathy, early infantile, 51", 
            "resource": "MIM", 
            "id": "MIM:617339", 
            "name": "Epileptic encephalopathy, early infantile, 51"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080433", 
        "description": "An early infantile epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080433", 
        "name": "early infantile epileptic encephalopathy 51"
    }
}