{
    "disease_id": "DOID:0112207",
    "recommended_name": {
        "id": "DOID:0112207",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112207",
        "name": "developmental and epileptic encephalopathy 71",
        "description": "A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112207",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112207",
            "name": "DEE71",
            "description": ""
        },
        {
            "id": "DOID:0112207",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112207",
            "name": "early infantile epileptic encephalopathy 71",
            "description": ""
        },
        {
            "id": "DOID:0112207",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112207",
            "name": "glutaminase deficiency with neonatal epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0032678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032678",
            "name": "developmental and epileptic encephalopathy, 71",
            "description": ""
        },
        {
            "id": "MONDO:0032678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032678",
            "name": "DEE71",
            "description": ""
        },
        {
            "id": "MONDO:0032678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032678",
            "name": "EIEE71",
            "description": ""
        },
        {
            "id": "MONDO:0032678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032678",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71",
            "description": ""
        },
        {
            "id": "MONDO:0032678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032678",
            "name": "developmental and epileptic encephalopathy 71",
            "description": ""
        },
        {
            "id": "MONDO:0032678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032678",
            "name": "epileptic encephalopathy, early infantile, 71",
            "description": ""
        },
        {
            "id": "MONDO:0032678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032678",
            "name": "Glutaminase Deficiency With Neonatal Epileptic Encephalopathy",
            "description": ""
        },
        {
            "id": "MIM:618328",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618328",
            "name": "Developmental and epileptic encephalopathy 71",
            "description": "Developmental and epileptic encephalopathy 71"
        }
    ]
}