{
    "disease_id": "DOID:0080433",
    "recommended_name": {
        "id": "DOID:0080433",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080433",
        "name": "developmental and epileptic encephalopathy 51",
        "description": "A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11."
    },
    "synonyms": [
        {
            "id": "DOID:0080433",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080433",
            "name": "DEE51",
            "description": ""
        },
        {
            "id": "DOID:0080433",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080433",
            "name": "early infantile epileptic encephalopathy 51",
            "description": ""
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "developmental and epileptic encephalopathy, 51",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene."
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "DEE51",
            "description": ""
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "EIEE51",
            "description": ""
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "MDH2 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "developmental and epileptic encephalopathy 51",
            "description": ""
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "early infantile epileptic encephalopathy caused by mutation in MDH2",
            "description": ""
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "epileptic encephalopathy, early infantile, 51",
            "description": ""
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "epileptic encephalopathy, early infantile, 51; EIEE51",
            "description": ""
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "epileptic encephalopathy, early infantile, type 51",
            "description": ""
        },
        {
            "id": "MIM:617339",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617339",
            "name": "Developmental and epileptic encephalopathy 51",
            "description": "Developmental and epileptic encephalopathy 51"
        }
    ]
}