{
    "disease_id": "DOID:0112202",
    "recommended_name": {
        "id": "DOID:0112202",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112202",
        "name": "developmental and epileptic encephalopathy",
        "description": "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood."
    },
    "synonyms": [
        {
            "id": "MONDO:0018226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018226",
            "name": "infantile epileptic-dyskinetic encephalopathy",
            "description": "Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability."
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "developmental and epileptic encephalopathy, 1",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene."
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "early infantile epileptic encephalopathy caused by mutation in arx",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "early infantile epileptic encephalopathy caused by mutation in ARX",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "XMESID",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "infantile epileptic-dyskinetic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "EIEE1",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "infantile spasm syndrome, X-linked 1",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "developmental and epileptic encephalopathy 1, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "ARX early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "arx early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "Ohtahara syndrome, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "West syndrome, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "epileptic encephalopathy, early infantile, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "DEE1",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "epileptic encephalopathy, early infantile, 1",
            "description": ""
        },
        {
            "id": "MONDO:0017856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0017856",
            "name": "X-linked spasticity-intellectual disability-epilepsy syndrome",
            "description": ""
        },
        {
            "id": "MIM:308350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/308350",
            "name": "Developmental and epileptic encephalopathy 1",
            "description": "Developmental and epileptic encephalopathy 1"
        },
        {
            "id": "MIM:308350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/308350",
            "name": "Developmental and epileptic encephalopathy 1",
            "description": "Developmental and epileptic encephalopathy 1"
        },
        {
            "id": "MIM:308350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/308350",
            "name": "Developmental and epileptic encephalopathy 1",
            "description": "Developmental and epileptic encephalopathy 1"
        }
    ]
}